Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23). Human PCDH15 is reported to be comprised of 35 exons and encodes a variety of isoforms with 3 to 11 ectodomains (EC), a transmembr...

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Autores principales: Ahmed, Zubair M., Riazuddin, Saima, Aye, Sandar, Ali, Rana A., Venselaar, Hanka, Anwar, Saima, Belyantseva, Polina P., Qasim, Muhammad, Riazuddin, Sheikh, Friedman, Thomas B.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2008
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2716558/
https://ncbi.nlm.nih.gov/pubmed/18719945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-008-0543-3
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