Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families

Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. To date, 67 autosomal recessive nonsyndromic hearing impairment (ARNSHI) loci have been mapped, and 24 genes have been identified. This report describes three large consanguineous ARNSHI Pakistani families, all of which dis...

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Autores principales: Chishti, Muhammad S., Bhatti, Attya, Tamim, Sana, Lee, Kwanghyuk, McDonald, Merry-Lynn, Leal, Suzanne M., Ahmad, Wasim
Formato: Artigo
Lenguaje:Inglês
Publicado: 2007
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2757049/
https://ncbi.nlm.nih.gov/pubmed/18084694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10038-007-0209-3
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