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Article

Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.

Molecular vision - 24 Jul 2007

Jin Chongfei, Yao Ke, Jiang Jin, Tang Xiajing, Shentu Xingchao, Wu Renyi

Abstract excerpt

PURPOSE: To identify mutations in the fibrillin-1 gene (FBN1) and provide further information about genotype-phenotype correlations in Chinese patients with predominant ectopia lentis (EL) and marfanoid habitus. METHODS: Patients from seven Chinese families underwent complete physical, ophthalmic, and cardiovascular examination. Genomic DNA was extracted from leukocytes of peripheral blood from the patients. The...

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Source

Identifiers

PMID: 17679947

Genes

FBN1

Variants

Provenance

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