Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene

PURPOSE: To describe the clinical phenotype of X linked juvenile retinoschisis (XLRS) in 12 Chinese families with 11 different mutations in the XLRS1 (RS1) gene. METHODS: Complete ophthalmic examinations were carried out in 29 affected males (12 probands), 38 heterozygous females carriers, and 100 c...

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Detalles Bibliográficos
Autores principales: Li, Xiaoxin, Ma, Xiang, Tao, Yong
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768756/
https://www.ncbi.nlm.nih.gov/pubmed/17615541

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768756/
https://www.ncbi.nlm.nih.gov/pubmed/17615541

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