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ectopia lentis/tyrosine
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A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.
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OBJECTIVE
To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS).
METHODS
Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA samples were extracted from the peripheral blood of the
Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.
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OBJECTIVE
To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with ectopia lentis (EL) and to predict the structural and functional consequences of the mutation.
METHODS
Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations.
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