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 &#946; 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&gt;T/OMIM: 121011.0009/rs80338948) variant remains the most frequent variant associated wi...

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Bibliographic Details
Main Authors: Samuel M. Adadey, Edmond Tingang Wonkam, Elvis Twumasi Aboagye, Darius Quansah, Adwoa Asante-Poku, Osbourne Quaye, Geoffrey K. Amedofu, Gordon A. Awandare, Ambroise Wonkam
Format: Article
Published: MDPI AG 2020-01-01
Online Access:https://www.mdpi.com/2073-4425/11/2/132