Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions

Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss includes GJB2 sequencing and DFNB1 deletion ana...

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Detalles Bibliográficos
Autores principales: Bliznetz, Elena A, Lalayants, Maria R, Markova, Tatiana G, Balanovsky, Oleg P, Balanovska, Elena V, Skhalyakho, Roza A, Pocheshkhova, Elvira A, Nikitina, Natalya V, Voronin, Sergey V, Kudryashova, Elena K, Glotov, Oleg S, Polyakov, Alexander V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584515/
https://www.ncbi.nlm.nih.gov/pubmed/28405014
http://dx.doi.org/10.1038/jhg.2017.42

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584515/
https://www.ncbi.nlm.nih.gov/pubmed/28405014
http://dx.doi.org/10.1038/jhg.2017.42

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