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Journal Article
Basmanav, B., Oprisoreanu, A., Fritz, G., Wenzel, J., Lestringant, G., Thiele, H., Hanneken, S., Bygum, A. and Betz, R. (2014). Mutations in POGLUT1 and POFUT1 cause Dowling-Degos disease and elucidate a gene-phenotype correlation. J. Invest. Dermatol., 134. S. S53 - 1. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1747
Basmanav, F. B., Cau, L., Tafazzoli, A., Mechin, M., Wolf, S., Romano, M. T., Valentin, F., Wiegmann, H., Huchenq, A., Kandil, R., Bartels, N. Garcia, Kilic, A., George, S., Ralser, D. J., Bergner, S., Ferguson, D. J., Oprisoreanu, A., Wehner, M., Thiele, H., Altmueller, J., Nuernberg, P., Swan, D., Houniet, D., Buechner, A., Weibel, L., Wagner, N., Grimalt, R., Bygum, A., Serre, G., Blume-Peytavi, U., Sprecher, E., Schoch, S., Oji, V., Hamm, H., Farrant, P., Simon, M. and Betz, R. C. (2017). Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Exp. Dermatol., 26 (3). S. E48 - 1. HOBOKEN: WILEY. ISSN 1600-0625