Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family

Usher syndrome (USH) is an autosomal recessive (AR) multi-sensory degenerative disorder leading to deaf-blindness. USH is clinically subdivided into three subclasses, and 10 genes have been identified thus far. Clinical and genetic heterogeneities in USH make a precise diagnosis difficult. A dominan...

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Detalles Bibliográficos
Autores principales: ZHENG, SUI-LIAN, ZHANG, HONG-LIANG, LIN, ZHEN-LANG, KANG, QIAN-YAN
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564089/
https://www.ncbi.nlm.nih.gov/pubmed/26310143
http://dx.doi.org/10.3892/ijmm.2015.2322

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564089/
https://www.ncbi.nlm.nih.gov/pubmed/26310143
http://dx.doi.org/10.3892/ijmm.2015.2322

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