Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness

OBJECTIVE: In Pakistan, 74% of consanguineous marriages are among the first cousins. Continuity of consanguineous marriages over generations increases the risk of recessive diseases such as deafness. The objective of this study was to investigate genetic origin of Pakistani deaf brothers with parent...

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Detalles Bibliográficos
Autores principales: Sabiha, Bibi, Ali, Johar, Yousafzai, Yasar Mehmood, Haider, Syed Adnan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408642/
https://www.ncbi.nlm.nih.gov/pubmed/30881389
http://dx.doi.org/10.12669/pjms.35.1.98

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408642/
https://www.ncbi.nlm.nih.gov/pubmed/30881389
http://dx.doi.org/10.12669/pjms.35.1.98

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