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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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| Главные авторы: | , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2008
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| Предметы: | |
| Online-ссылка: | 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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