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

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

<b>AIM:</b>To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS).<b>METHODS:</b>Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA samples were extracted from...

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Bibliographic Details
Main Authors: Yi Zhai, Wei Wang, Ya-Nan Zhu, Jin-Yu Li, Yin-Hui Yu, Kai-Ran Lai, Ke Yao
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2015-10-01
Series:International Journal of Ophthalmology
Subjects:
Marfan syndrome
fibrillin-1
ectopia lentis syndrome
cysteine residue
Online Access:http://www.ijo.cn/en_publish/2015/5/20150501.pdf

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