Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a <i>GJB2</i> Founder Mutation for Hearing Impairment in Ghana
In Ghana, gap-junction protein β 2 (<i>GJB2</i>) variants account for about 25.9% of familial hearing impairment (HI) cases. The <i>GJB2</i>-p.Arg143Trp (NM_004004.6:c.427C>T/OMIM: 121011.0009/rs80338948) variant remains the most frequent variant associated wi...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-01-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/11/2/132 |