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ectopia lentis/tyrosine

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ČlankiKliničnih preskušanjPatenti
2 rezultatov

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.

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Prijava / prijava
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.

Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
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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