A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Main Authors: Zhai, Yi, Wang, Wei, Zhu, Ya-Nan, Li, Jin-Yu, Yu, Yin-Hui, Lai, Kai-Ran, Yao, Ke
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2015
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!