Exome sequencing reveals CCDC111 mutation associated with high myopia

Human Genetics

Volumn 132, Issue 8, 2013, Pages 913-921

  Zhao, Fuxin ^a,b   Wu, Jinyu ^a   Xue, Anquan ^a,b   Su, Yanfeng ^a,b   Wang, Xiaojing ^a,b   Lu, Xianmin ^a,b   Zhou, Zhonglou ^a,b   Qu, Jia ^a,b   Zhou, Xiangtian ^a,b  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b BEIJING HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CCDC111 GENE; CHINESE; CHOROID MELANOMA; CONTROLLED STUDY; EXOME; EXON; FEMALE; FIBROBLAST; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HIGH MYOPIA; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIMARY CELL CULTURE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; EXOME; FEMALE; GENE EXPRESSION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOPIA; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 84880923845     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1303-6     Document Type: Article

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