Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China

AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1 (FBN1) gene responsible for congenital ectopia lentis (EL) in two Chinese families in northern China. METHODS: A detailed family history and clinical data from all participants were collected by clinical ex...

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Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Main Authors: Tang, Su-Zhen, Liu, Ya-Ning, Hu, Shao-Hua, Chen, Hao, Zhao, Hui, Feng, Xue-Mei, Pan, Xiao-Jing, Chen, Peng
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2019
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6848879/
https://ncbi.nlm.nih.gov/pubmed/31741853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2019.11.02
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