USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

We ascertained two large Pakistani consanguineous families (PKDF231 and PKDF608) segregating profound hearing loss, vestibular dysfunction, and retinitis pigmentosa, the defining features of Usher syndrome type 1 (USH1). To date seven USH1 loci have been reported. Here, we map a novel locus, USH1K,...

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Hlavní autoři: Jaworek, Thomas J., Bhatti, Rashid, Latief, Naureen, Khan, Shaheen N., Riazuddin, Saima, Ahmed, Zubair M
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3596105/
https://ncbi.nlm.nih.gov/pubmed/22718019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2012.79
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