A Chinese family with Oguchi’s disease due to compound heterozygosity including a novel deletion in the arrestin gene

PURPOSE: Oguchi’s disease is a rare autosomal recessive disease and known to be caused by mutations in the rhodopsin kinase (GRK1) gene or the arrestin (SAG) gene. SAG contains 16 exons and encodes a protein with 405 amino acids. This study was to identify the underlying genetic defects in a non-con...

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Detalles Bibliográficos
Autores principales: Huang, Lingli, Li, Wen, Tang, Weilin, Zhu, Xiaohua, Ou-yang, Pingbo, Lu, Guangxiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298420/
https://www.ncbi.nlm.nih.gov/pubmed/22419846

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298420/
https://www.ncbi.nlm.nih.gov/pubmed/22419846

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