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pro vyhledávání: '"Luria Bartoloni"'
Autor:
Kristi D. Viles, Luria Bartoloni, James M. Gilchrist, Udana Torian, Michael A. Hauser, Richard W. Tim, Anu Taivainen, Stephen K. Horrigan, Carol A. Westbrook, Marcy C. Speer, P. Craig Gaskell, Margaret A. Pericak-Vance, Ria Dancel, Jeffrey M. Stajich, Paula Salmikangas, Jeffrey M. Vance, John R. Gilbert, Olli Carpén
Publikováno v:
Human Molecular Genetics. 9:2141-2147
We have identified a mutation in the myotilin gene in a large North American family of German descent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A). We have previously mapped this gene to 5q31. Symptoms of this adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::027ac52f41f0a3658f138c2a073ab65a
https://doi.org/10.1093/hmg/9.14.2141
https://doi.org/10.1093/hmg/9.14.2141
