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
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.
اكتب أحد الأعراض أو المرض واقرأ عن الأعشاب التي قد تساعد ، واكتب عشبًا واطلع على الأمراض والأعراض التي تستخدم ضدها. * تستند جميع المعلومات إلى البحوث العلمية المنشورة