Lin, Wei-Yu
ORCID: 0000-0002-9267-7988, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan
ORCID: 0000-0003-1942-325X, Michailidou, Kyriaki
ORCID: 0000-0001-7065-1237, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer
ORCID: 0000-0001-5077-0124, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Rutgers, Emiel J. Th, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia
ORCID: 0000-0001-9387-7116, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Frederik, Surowy, Harald M., Burwinkel, Barbara, Guenel, Pascal
ORCID: 0000-0002-8359-518X, Truong, Therese
ORCID: 0000-0002-2943-6786, Menegaux, Florence
ORCID: 0000-0003-3363-6411, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio
ORCID: 0000-0003-4500-397X, Menendez, Primitiva, Gonzalez-Neira, Anna
ORCID: 0000-0002-5421-2020, Pita, Guillermo
ORCID: 0000-0003-2393-0510, Rosario Alonso, M., Alvarez, Nuria, Herrera, Daniel, Anton-Culver, Hoda, Brenner, Hermann
ORCID: 0000-0002-6129-1572, Dieffenbach, Aida Karina, Arndt, Volker
ORCID: 0000-0001-9320-8684, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Mueller-Myhsok, Bertram, Brauch, Hiltrud
ORCID: 0000-0001-7531-2736, Bruening, Thomas, Ko, Yon-Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli
ORCID: 0000-0002-0916-2976, Aittomaeki, Kristiina, Blomqvist, Carl
ORCID: 0000-0003-3041-1938, Khan, Sofia
ORCID: 0000-0003-4185-8882, Matsuo, Keitaro
ORCID: 0000-0003-1761-6314, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa
ORCID: 0000-0003-4846-4843, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-Chen, Van den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els
ORCID: 0000-0002-0115-0030, Wildiers, Hans, Lambrechts, Diether
ORCID: 0000-0002-3429-302X, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo
ORCID: 0000-0001-6298-4111, Peterlongo, Paolo
ORCID: 0000-0001-6951-6855, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick
ORCID: 0000-0002-3073-7463, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei
ORCID: 0000-0003-1226-070X, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong
ORCID: 0000-0002-7433-9766, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter
ORCID: 0000-0002-8023-2009, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia-Closas, Montserrat
ORCID: 0000-0003-1033-2650, Figueroa, Jonine, Lissowska, Jolanta
ORCID: 0000-0003-2695-5799, Brinton, Louise, Czene, Kamila
ORCID: 0000-0002-3233-5695, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S.
ORCID: 0000-0002-3720-1274, Hooning, Maartje J., Hollestelle, Antoinette
ORCID: 0000-0003-1166-1966, Van den Ouweland, Ans M. W., Jager, Agnes, Li, Jingmei
ORCID: 0000-0001-8587-7511, Liu, Jianjun
ORCID: 0000-0002-3255-3019, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee
ORCID: 0000-0003-4031-5878, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael
ORCID: 0000-0001-5726-9965, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna
ORCID: 0000-0002-5650-0501, Lubinski, Jan
ORCID: 0000-0003-2931-3003, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis
ORCID: 0000-0001-7509-3510, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Ding, Shian-ling, Ashworth, Alan, Jones, Michael
ORCID: 0000-0001-7479-3451, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas
ORCID: 0000-0003-1154-6204, Irwanto, Astrid, Rahman, Nazneen
ORCID: 0000-0003-4376-0440, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E. J., Adank, Muriel A., Van der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia
ORCID: 0000-0002-1878-2587, Dunning, Alison, Easton, Douglas F. and Cox, Angela
ORCID: 0000-0002-5138-1099
(2015).
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
Hum. Mol. Genet., 24 (1).
S. 285 - 299.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Full text not available from this repository.
Abstract
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, Cl)] for the minor allele of 1.05(1.03-1.07), P = 1 x 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 x 10(-6)), yielding a combined OR (95% Cl) of 1.06(1.04-1.08), P = 1 x 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Lin, Wei-Yu | UNSPECIFIED | orcid.org/0000-0002-9267-7988 | UNSPECIFIED | Camp, Nicola J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ghoussaini, Maya | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beesley, Jonathan | UNSPECIFIED | orcid.org/0000-0003-1942-325X | UNSPECIFIED | Michailidou, Kyriaki | UNSPECIFIED | orcid.org/0000-0001-7065-1237 | UNSPECIFIED | Hopper, John L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Apicella, Carmel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Southey, Melissa C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stone, Jennifer | UNSPECIFIED | orcid.org/0000-0001-5077-0124 | UNSPECIFIED | Schmidt, Marjanka K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Broeks, Annegien | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Van't Veer, Laura J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rutgers, Emiel J. Th | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Muir, Kenneth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lophatananon, Artitaya | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stewart-Brown, Sarah | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Siriwanarangsan, Pornthep | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fasching, Peter A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haeberle, Lothar | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ekici, Arif B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beckmann, Matthias W. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peto, Julian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dos-Santos-Silva, Isabel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fletcher, Olivia | UNSPECIFIED | orcid.org/0000-0001-9387-7116 | UNSPECIFIED | Johnson, Nichola | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bolla, Manjeet K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Qin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dennis, Joe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sawyer, Elinor J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cheng, Timothy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tomlinson, Ian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kerin, Michael J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Miller, Nicola | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Marme, Frederik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Surowy, Harald M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Burwinkel, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Guenel, Pascal | UNSPECIFIED | orcid.org/0000-0002-8359-518X | UNSPECIFIED | Truong, Therese | UNSPECIFIED | orcid.org/0000-0002-2943-6786 | UNSPECIFIED | Menegaux, Florence | UNSPECIFIED | orcid.org/0000-0003-3363-6411 | UNSPECIFIED | Mulot, Claire | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bojesen, Stig E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nordestgaard, Borge G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nielsen, Sune F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flyger, Henrik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Benitez, Javier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zamora, M. Pilar | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arias Perez, Jose Ignacio | UNSPECIFIED | orcid.org/0000-0003-4500-397X | UNSPECIFIED | Menendez, Primitiva | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gonzalez-Neira, Anna | UNSPECIFIED | orcid.org/0000-0002-5421-2020 | UNSPECIFIED | Pita, Guillermo | UNSPECIFIED | orcid.org/0000-0003-2393-0510 | UNSPECIFIED | Rosario Alonso, M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Alvarez, Nuria | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Herrera, Daniel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Anton-Culver, Hoda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brenner, Hermann | UNSPECIFIED | orcid.org/0000-0002-6129-1572 | UNSPECIFIED | Dieffenbach, Aida Karina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arndt, Volker | UNSPECIFIED | orcid.org/0000-0001-9320-8684 | UNSPECIFIED | Stegmaier, Christa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Meindl, Alfons | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lichtner, Peter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmutzler, Rita K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mueller-Myhsok, Bertram | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brauch, Hiltrud | UNSPECIFIED | orcid.org/0000-0001-7531-2736 | UNSPECIFIED | Bruening, Thomas | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ko, Yon-Dschun | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tessier, Daniel C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vincent, Daniel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bacot, Francois | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nevanlinna, Heli | UNSPECIFIED | orcid.org/0000-0002-0916-2976 | UNSPECIFIED | Aittomaeki, Kristiina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blomqvist, Carl | UNSPECIFIED | orcid.org/0000-0003-3041-1938 | UNSPECIFIED | Khan, Sofia | UNSPECIFIED | orcid.org/0000-0003-4185-8882 | UNSPECIFIED | Matsuo, Keitaro | UNSPECIFIED | orcid.org/0000-0003-1761-6314 | UNSPECIFIED | Ito, Hidemi | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Iwata, Hiroji | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Horio, Akiyo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bogdanova, Natalia V. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Antonenkova, Natalia N. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Doerk, Thilo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lindblom, Annika | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Margolin, Sara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mannermaa, Arto | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kataja, Vesa | UNSPECIFIED | orcid.org/0000-0003-4846-4843 | UNSPECIFIED | Kosma, Veli-Matti | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hartikainen, Jaana M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wu, Anna H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tseng, Chiu-Chen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Van den Berg, David | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stram, Daniel O. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Neven, Patrick | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wauters, Els | UNSPECIFIED | orcid.org/0000-0002-0115-0030 | UNSPECIFIED | Wildiers, Hans | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lambrechts, Diether | UNSPECIFIED | orcid.org/0000-0002-3429-302X | UNSPECIFIED | Chang-Claude, Jenny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rudolph, Anja | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Seibold, Petra | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flesch-Janys, Dieter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Radice, Paolo | UNSPECIFIED | orcid.org/0000-0001-6298-4111 | UNSPECIFIED | Peterlongo, Paolo | UNSPECIFIED | orcid.org/0000-0001-6951-6855 | UNSPECIFIED | Manoukian, Siranoush | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bonanni, Bernardo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Couch, Fergus J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Xianshu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vachon, Celine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Purrington, Kristen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giles, Graham G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Milne, Roger L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mclean, Catriona | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haiman, Christopher A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Henderson, Brian E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schumacher, Fredrick | UNSPECIFIED | orcid.org/0000-0002-3073-7463 | UNSPECIFIED | Le Marchand, Loic | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Simard, Jacques | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goldberg, Mark S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Labreche, France | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dumont, Martine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teo, Soo Hwang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yip, Cheng Har | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hassan, Norhashimah | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vithana, Eranga Nishanthie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kristensen, Vessela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zheng, Wei | UNSPECIFIED | orcid.org/0000-0003-1226-070X | UNSPECIFIED | Deming-Halverson, Sandra | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Shrubsole, Martha J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Long, Jirong | UNSPECIFIED | orcid.org/0000-0002-7433-9766 | UNSPECIFIED | Winqvist, Robert | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Pylkaes, Katri | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Jukkola-Vuorinen, Arja | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kauppila, Saila | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrulis, Irene L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Knight, Julia A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Glendon, Gord | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tchatchou, Sandrine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Devilee, Peter | UNSPECIFIED | orcid.org/0000-0002-8023-2009 | UNSPECIFIED | Tollenaar, Robert A. 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|
URN: |
urn:nbn:de:hbz:38-419001 |
DOI: |
10.1093/hmg/ddu431 |
Journal or Publication Title: |
Hum. Mol. Genet. |
Volume: |
24 |
Number: |
1 |
Page Range: |
S. 285 - 299 |
Date: |
2015 |
Publisher: |
OXFORD UNIV PRESS |
Place of Publication: |
OXFORD |
ISSN: |
1460-2083 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
GENOME-WIDE ASSOCIATION; CASP8; VARIANTS; LOCI | Multiple languages | Biochemistry & Molecular Biology; Genetics & Heredity | Multiple languages |
|
URI: |
http://kups.ub.uni-koeln.de/id/eprint/41900 |
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