Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa

BACKGROUND: Retinitis pigmentosa is the most important hereditary retinal degenerative disease, which has a high degree of clinical and genetic heterogeneity. More than half of all cases of retinitis pigmentosa are autosomal recessive (arRP), but the gene(s) causing arRP in most families has yet to...

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Detalles Bibliográficos
Autores principales: Huang, Yukan, Zhang, Jing, Li, Chang, Yang, Guohua, Liu, Mugen, Wang, Qing K, Tang, Zhaohui
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927534/
https://www.ncbi.nlm.nih.gov/pubmed/20696082
http://dx.doi.org/10.1186/1471-2350-11-121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927534/
https://www.ncbi.nlm.nih.gov/pubmed/20696082
http://dx.doi.org/10.1186/1471-2350-11-121

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