Open AccessMutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China
Author(s) -
Su-zhen Tang
Publication year - 2019
Publication title -
international journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2019.11.02
Subject(s) - proband , ectopia lentis , sanger sequencing , genetics , exon , mutation , gene , fibrillin , haplotype , medicine , marfan syndrome , phenotype , chinese family , microbiology and biotechnology , biology , genotype
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.
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