Identification of a gja3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing

Indian Journal of Biochemistry and Biophysics

Volumn 50, Issue 4, 2013, Pages 253-258

  Guo, Yi ^a,b   Yuan, Lamei ^a   Yi, Junhui ^a   Xiao, Jingjing ^c   Xu, Hongbo ^a   Lv, Hongwei ^a   Xiong, Wei ^b   Zheng, Wen ^a   Guan, Liping ^c   Zhang, Jianguo ^c   Xiang, Hong ^a   Qi, Yong ^a   Deng, Hao ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b Central South University   (China)

^c BGI SHENZHEN   (China)

Author keywords

Congenital nuclear cataract; Exome sequencing; Gap junction; GJA3 gene; Mutation; p.D47N

Indexed keywords

CONNEXIN 46; GAP JUNCTION PROTEIN;

ADULT; ANIMAL; ARTICLE; ASIAN; CATARACT; CATTLE; EXOME; FEMALE; GENETICS; HUMAN; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE;

ADULT; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CATTLE; CONNEXINS; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84883479369     PISSN: 03011208     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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