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...
Topics
- Adolescent
- Adult
- Amino Acid Substitution
- Arginine
- Asian People
- Base Sequence
- Child
- Cysteine
- DNA Mutational Analysis
- Ectopia Lentis
- Female
- Fibrillin-1
- Fibrillins
- Genetic Predisposition to Disease
- Humans
- Male
- Marfan Syndrome
- Microfilament Proteins