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Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?

The GJB2 gene is the most frequent cause of congenital or early onset hearing loss worldwide. In this study, we investigated the haplotypes of six GJB2 mutations frequently observed in Japanese hearing loss patients (i.e., c.235delC, p.V37I, p.[G45E; Y136X], p.R143W, c.176_191del, and c.299_300delAT...

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Detalles Bibliográficos
Autores principales:	Shinagawa, Jun, Moteki, Hideaki, Nishio, Shin-ya, Noguchi, Yoshihiro, Usami, Shin-ichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140863/ https://www.ncbi.nlm.nih.gov/pubmed/32120898 http://dx.doi.org/10.3390/genes11030250

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