Marbach, Felix ORCID: 0000-0003-3953-6235, Stoyanov, Georgi, Erger, Florian ORCID: 0000-0002-2768-1702, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah ORCID: 0000-0001-9906-4968, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martinez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Signer, Rebecca H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K. -G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya ORCID: 0000-0003-2172-8036, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiss, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber and Schaaf, Christian P.
(2021).
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Genet. Med., 23 (8).
S. 1465 - 1474.
LONDON:
SPRINGERNATURE.
ISSN 1530-0366
Full text not available from this repository.
Abstract
Purpose We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1 beta subunit of the cyclic AMP-dependent protein kinase A (PKA). Methods Variants of PRKAR1B were identified by single- or trio-exome analysis. We contacted the families and physicians of the six individuals to collect phenotypic information, performed in vitro analyses of the identified PRKAR1B-variants, and investigated PRKAR1B expression during embryonic development. Results Recent studies of large patient cohorts with neurodevelopmental disorders found significant enrichment of de novo missense variants in PRKAR1B. In our cohort, de novo origin of the PRKAR1B variants could be confirmed in five of six individuals, and four carried the same heterozygous de novo variant c.1003C>T (p.Arg335Trp; NM_001164760). Global developmental delay, autism spectrum disorder, and apraxia/dyspraxia have been reported in all six, and reduced pain sensitivity was found in three individuals carrying the c.1003C>T variant. PRKAR1B expression in the brain was demonstrated during human embryonal development. Additionally, in vitro analyses revealed altered basal PKA activity in cells transfected with variant-harboring PRKAR1B expression constructs. Conclusion Our study provides strong evidence for a PRKAR1B-related neurodevelopmental disorder.
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Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Marbach, Felix | UNSPECIFIED | orcid.org/0000-0003-3953-6235 | UNSPECIFIED | Stoyanov, Georgi | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Erger, Florian | UNSPECIFIED | orcid.org/0000-0002-2768-1702 | UNSPECIFIED | Stratakis, Constantine A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Settas, Nikolaos | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | London, Edra | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rosenfeld, Jill A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Torti, Erin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haldeman-Englert, Chad | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sklirou, Evgenia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kessler, Elena | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ceulemans, Sophia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nelson, Stanley F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Martinez-Agosto, Julian A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Palmer, Christina G. S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Signer, Rebecca H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Acosta, Maria T. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Adam, Margaret | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Adams, David R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Agrawal, Pankaj B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Alejandro, Mercedes E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Alvey, Justin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Amendola, Laura | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrews, Ashley | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ashley, Euan A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Azamian, Mahshid S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bacino, Carlos A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bademci, Guney | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Baker, Eva | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Balasubramanyam, Ashok | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Baldridge, Dustin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bale, Jim | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bamshad, Michael | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Barbouth, Deborah | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bayrak-Toydemir, Pinar | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beck, Anita | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beggs, Alan H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Behrens, Edward | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bejerano, Gill | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bennett, Jimmy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Berg-Rood, Beverly | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bernstein, Jonathan A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Berry, Gerard T. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bican, Anna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bivona, Stephanie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blue, Elizabeth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bohnsack, John | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bonnenmann, Carsten | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bonner, Devon | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Botto, Lorenzo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Boyd, Brenna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Briere, Lauren C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brokamp, Elly | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brown, Gabrielle | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Burke, Elizabeth A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Burrage, Lindsay C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Butte, Manish J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Byers, Peter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Byrd, William E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Carey, John | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Carrasquillo, Olveen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chang, Ta Chen Peter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chanprasert, Sirisak | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chao, Hsiao-Tuan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Clark, Gary D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Coakley, Terra R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cobban, Laurel A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cogan, Joy D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Coggins, Matthew | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cole, F. 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Carl | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Palmer, Christina G. S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Papp, Jeanette C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Parker, Neil H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Phillips, John A., III | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Posey, Jennifer E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Potocki, Lorraine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Power, Bradley | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pusey, Barbara N. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Quinlan, Aaron | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Raja, Archana N. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rao, Deepak A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Raskind, Wendy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Renteria, Genecee | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Reuter, Chloe M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rives, Lynette | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Robertson, Amy K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rodan, Lance H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rosenfeld, Jill A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rosenwasser, Natalie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rossignol, Francis | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ruzhnikov, Maura | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sacco, Ralph | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sampson, Jacinda B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Samson, Susan L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Saporta, Mario | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schaechter, Judy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schedl, Timothy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schoch, Kelly | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Scott, C. Ron | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Scott, Daryl A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Shashi, Vandana | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Shin, Jimann | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Signer, Rebecca H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Silverman, Edwin K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sinsheimer, Janet S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sisco, Kathy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Smith, Edward C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Smith, Kevin S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Solem, Emily | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Solnica-Krezel, Lilianna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Spillmann, Rebecca C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stoler, Joan M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sullivan, Jennifer A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sullivan, Kathleen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sun, Angela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sutton, Shirley | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sweetser, David A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sybert, Virginia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tabor, Holly K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tan, Amelia L. M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tan, Queenie K. -G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tekin, Mustafa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Telischi, Fred | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Thorson, Willa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Thurm, Audrey | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tifft, Cynthia J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Toro, Camilo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tran, Alyssa A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tucker, Brianna M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Urv, Tiina K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vanderver, Adeline | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Velinder, Matt | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Viskochil, Dave | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vogel, Tiphanie P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wahl, Colleen E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Walker, Melissa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wallace, Stephanie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Walley, Nicole M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Walsh, Chris A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wambach, Jennifer | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wan, Jijun | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Lee-kai | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wangler, Michael F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ward, Patricia A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wegner, Daniel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wener, Mark | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wenger, Tara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Perry, Katherine Wesseling | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Westerfield, Monte | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wheeler, Matthew T. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Whitlock, Jordan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wolfe, Lynne A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Woods, Jeremy D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yamamoto, Shinya | UNSPECIFIED | orcid.org/0000-0003-2172-8036 | UNSPECIFIED | Yang, John | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yousef, Muhammad | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zastrow, Diane B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zein, Wadih | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zhao, Chunli | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zuchner, Stephan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrews, Marisa V. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Grange, Dorothy K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Willaert, Rebecca | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Person, Richard | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Telegrafi, Aida | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sievers, Aaron | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Laugsch, Magdalena | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Theiss, Susanne | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cheng, YuZhu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lichtarge, Olivier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Katsonis, Panagiotis | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stocco, Amber | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schaaf, Christian P. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED |
|
URN: |
urn:nbn:de:hbz:38-607318 |
DOI: |
10.1038/s41436-021-01152-7 |
Journal or Publication Title: |
Genet. Med. |
Volume: |
23 |
Number: |
8 |
Page Range: |
S. 1465 - 1474 |
Date: |
2021 |
Publisher: |
SPRINGERNATURE |
Place of Publication: |
LONDON |
ISSN: |
1530-0366 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
PROTEIN-KINASE-A; REGULATORY SUBUNIT; MUTATION; MICE; PKA | Multiple languages | Genetics & Heredity | Multiple languages |
|
URI: |
http://kups.ub.uni-koeln.de/id/eprint/60731 |
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