Zobrazeno 1 - 3
of 3
pro vyhledávání: '"ethnic isolate"'
Autor:
Sergey N. Bardakov, Roman V. Deev, Аrtur А. Isaev, Nikita N. Khromov‐Borisov, Evgeniy D. Kopylov, Мaria R. Savchuk, Maxim S. Pushkin, Evgeniy V. Presnyakov, Raisat M. Magomedova, Patimat G. Achmedova, Zoya R. Umakhanova, Vladimir S. Kaimonov, Elizaveta V. Musatova, Konstantin А. Blagodatskikh, Aleksandra А. Tveleneva, Yana V. Sofronova, Ivan A. Yakovlev
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract Background Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists. However, the frequency of endemic mutations in most isolates has not be
Externí odkaz:
https://doaj.org/article/293d70115cc14046b98306c7af3f8ccc
Akademický článek
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Autor:
Frederik G. Dikkers, Els Van Hul, Patrick Willems, Henk Obee, Wim Van Hul, Guy Van Camp, Wendy Balemans, Robert J. Stokroos, Filip Vanhoenacker, Peter Hildering
Publikováno v:
American Journal of Human Genetics, 62(2), 391-399. CELL PRESS
The American journal of human genetics
The American journal of human genetics
Van Buchem disease (hyperostosis corticalis generalisata; OMIM 239100 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?239100]) is an autosomal recessive disorder characterized by hyperostosis of the skull, mandible, clavicles, ribs, and dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d217db47bbf99ad212fee94b44a0a3b