Open AccessNovel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract
Author(s) -
Peng Chen,
Hao Chen,
Xiaojing Pan,
Su-zhen Tang,
Yujun Xia,
Hui Zhang
Publication year - 2018
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.2018.10.01
Subject(s) - sanger sequencing , genetics , exome sequencing , mutation , medicine , exon , phenotype , indel , compound heterozygosity , biology , gene , genotype , single nucleotide polymorphism
To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese families.
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