Open AccessA novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family
Author(s) -
Menghan Wu,
Yinhui Yu,
Qin-Long Hao,
Xiaohua Gong,
Ke Yao
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.2017.01.01
Subject(s) - genetics , medicine , mutation , gene , exon , rna splicing , splice , dna sequencing , splice site mutation , family history , biology , alternative splicing , rna
To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family.
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