Article
Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.
Molecular genetics & genomic medicine - 1 Oct 2023
Bardakov Sergey N, Deev Roman V, Isaev Аrtur А, Khromov-Borisov Nikita N, Kopylov Evgeniy D, Savchuk Мaria R, Pushkin Maxim S, Presnyakov Evgeniy V, Magomedova Raisat M, Achmedova Patimat G, Umakhanova Zoya R, Kaimonov Vladimir S, Musatova Elizaveta V, Blagodatskikh Konstantin А, Tveleneva Aleksandra А, Sofronova Yana V, Yakovlev Ivan A
Abstract excerpt
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 been investigated. METHODS: The prevalence of the pathological DYSF gene variant (NM_003494.4); c.200_201delinsAT, p. Val67Asp (rs121908957) was investigated in an isolated...
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