Open AccessA novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family
Author(s) -
Xiukun Cui,
Keke Zhu,
Zheng Zhou,
Simin Wan,
Yi Dong,
Xuance Wang,
Jing Li,
Jing Zhang,
Hongmei Mu,
Lei Qin,
Yanzhong Hu
Publication year - 2017
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.2017.05.04
Subject(s) - genetics , frameshift mutation , proband , mutation , exon , mutant , medicine , genomic dna , gene , compound heterozygosity , mutant protein , microbiology and biotechnology , biology
To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family.
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