Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss

Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss

Hearing loss (HL) is the most prevalent sensory disorder whose etiology comes from environmental and/or genetic factors. Approximately 60 % of HL cases are due to mutations in genes responsible for maintaining a normal hearing function. Despite the monogenic inheritance of hereditary hearing loss (H...

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Bibliographic Details
Main Authors: Abdullah Al Mutery, Walaa Kamal Eldin Mohamed, Mona Mahfood, Jihen Chouchen, Abdelaziz Tlili
Format: Article
Language:English
Published: Elsevier 2023-02-01
Series:Saudi Journal of Biological Sciences
Subjects:
Non-syndromic Hearing Loss
Whole-exome sequencing
TMC1
c.596A > T mutation
Phenotypic variability
Protein docking
Online Access:http://www.sciencedirect.com/science/article/pii/S1319562X22004363

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http://www.sciencedirect.com/science/article/pii/S1319562X22004363

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