Article
Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype.
Molecular vision - 19 Feb 2011
Zhang Xiaohui, Zhang Qingsheng, Tong Yi, Dai Hanjun, Zhao Xin, Bai Fengge, Xu Liang, Li Yang
Abstract excerpt
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 screening of all exons of the PAX6 (paired box gene 6) gene was performed by direct sequencing of PCR-amplified DNA...
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