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: | 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 |
Language: | English |
Published: |
MDPI AG
2020-01-01
|
Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/11/2/132 |
Similar Items
-
<i>GJB2</i> and <i>GJB6</i> Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
by: Edmond Tingang Wonkam, et al.
Published: (2019-10-01) -
GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
by: Samuel M. Adadey, et al.
Published: (2019-09-01) -
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden
by: Samuel Mawuli Adadey, et al.
Published: (2020-10-01) -
<i>GJB</i>2 and <i>GJB</i>6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort
by: Paula Buonfiglio, et al.
Published: (2020-10-01) -
Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population
by: Somayeh Ebrahimkhani, et al.
Published: (2021-03-01)