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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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書誌詳細
主要な著者: Chishti, Muhammad S., Bhatti, Attya, Tamim, Sana, Lee, Kwanghyuk, McDonald, Merry-Lynn, Leal, Suzanne M., Ahmad, Wasim
フォーマット: Artigo
言語:Inglês
出版事項: 2007
主題:
オンライン・アクセス: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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