Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana

In Ghana, gap-junction protein β 2 (GJB2) variants account for about 25.9% of familial hearing impairment (HI) cases. The GJB2-p.Arg143Trp (NM_004004.6:c.427C>T/OMIM: 121011.0009/rs80338948) variant remains the most frequent variant associated with congenital HI in Ghana, but has not yet been inv...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: M. Adadey, Samuel, Tingang Wonkam, Edmond, Twumasi Aboagye, Elvis, Quansah, Darius, Asante-Poku, Adwoa, Quaye, Osbourne, K. Amedofu, Geoffrey, A. Awandare, Gordon, Wonkam, Ambroise
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7074138/
https://ncbi.nlm.nih.gov/pubmed/32012697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11020132
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