Ontology highlight
ABSTRACT:
SUBMITTER: Li J
PROVIDER: S-EPMC3626375 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Li Jinyu J Wang Qiwei Q Fu Qiuyue Q Zhu Yanan Y Zhai Yi Y Yu Yinhui Y Zhang Kai K Yao Ke K
Molecular vision 20130405
<h4>Purpose</h4>To characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract.<h4>Methods</h4>Detailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Candidate genes were amplified using PCR and screened for mutations using bidirectional sequencing.<h4>Results</h4>Affected individuals had nuclear and zonular pulverulent cataract with Y-sut ...[more]