A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract

Molecular Vision

Volumn 19, Issue , 2013, Pages 767-774

  Li, Jinyu ^a,b   Wang, Qiwei ^a,b   Fu, Qiuyue ^c   Zhu, Yanan ^a,b   Zhai, Yi ^a,b   Yu, Yinhui ^a,b   Zhang, Kai ^a,b   Yao, Ke ^a,b  

^a THE SECOND AFFILIATED HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Zhejiangn provincial key lab of ophthalmology ^*  (China)

^c Central Hospital of Taizhou City   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; GENOMIC DNA; HISTIDINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL CATARACT; CONNEXINN 50 GENE; CONTROLLED STUDY; DNA SEQUENCE; FAMILY HISTORY; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; MALE; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PATIENT ASSESSMENT; PHENOTYPE; PHOTOGRAPHY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLIT LAMP; VISUAL ACUITY; WILD TYPE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CATARACT; COMPUTATIONAL BIOLOGY; CONNEXINS; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, SECONDARY;

EID: 84876186592     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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