Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype

PURPOSE: To describe the clinical and genetic findings in two Chinese families with aniridia and other ocular abnormalities. METHODS: Two unrelated families were examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Mutation sc...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaohui, Zhang, Qingsheng, Tong, Yi, Dai, Hanjun, Zhao, Xin, Bai, Fengge, Xu, Liang, Li, Yang
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3044699/
https://www.ncbi.nlm.nih.gov/pubmed/21364908

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3044699/
https://www.ncbi.nlm.nih.gov/pubmed/21364908

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