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

AIM: 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 pedigre...

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Bibliographische Detailangaben
Veröffentlicht in:Int J Ophthalmol
Hauptverfasser: Zhai, Yi, Wang, Wei, Zhu, Ya-Nan, Li, Jin-Yu, Yu, Yin-Hui, Lai, Kai-Ran, Yao, Ke
Format: Artigo
Sprache:Inglês
Veröffentlicht: International Journal of Ophthalmology Press 2015
Schlagworte:
Basic Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4631002/
https://ncbi.nlm.nih.gov/pubmed/26558191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2015.05.01
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