Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan

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 pathologic...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568376/
https://www.ncbi.nlm.nih.gov/pubmed/37553796
http://dx.doi.org/10.1002/mgg3.2236

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