Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1

Molecular Vision

Volumn 18, Issue , 2012, Pages 2213-2220

  Yu, Yibo ^a   Li, Jinyu ^a   Xu, Jia ^a   Wang, Qiwei ^a   Yu, Yinhui ^a   Yao, Ke ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GLYCINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CONGENITAL CATARACT; CONTROLLED STUDY; CRYSTALLIN BETA A3 A1 GENE; DNA EXTRACTION; DNA SEQUENCE; EYE SURGERY; FAMILY HISTORY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; INTRON; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SLIT LAMP; SPLICE SITE MUTATION; VISUAL ACUITY;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BETA-CRYSTALLIN A CHAIN; CASE-CONTROL STUDIES; CATARACT; CHILD; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

EID: 84865824350     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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