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