A novel mutation in CRYBB2 responsible for inherited coronary cataract

Eye

Volumn 23, Issue 5, 2009, Pages 1213-1220

  Lou, D ^a   Tong, J P ^a   Zhang, L Y ^b   Chiang, S W Y ^b   Lam, D S C ^b   Pang, C P ^b  

^a ZHEJIANG UNIVERSITY   (China)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

CRYBB2 mutation; Crystallin; Inherited cataract

Indexed keywords

BETA B2 CRYSTALLIN; BETA CRYSTALLIN; LIPOCALIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CATARACT; CHILD; CHINESE; CHROMOSOME 1; CHROMOSOME 10; CHROMOSOME 22; CLINICAL ARTICLE; COMPUTER PROGRAM; CONTROLLED STUDY; CORONARY CATARACT; EXON; FAMILY; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOME ANALYSIS; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PROTEIN MOTIF; PROTEOMICS; SCHOOL CHILD; SCORING SYSTEM; SOLUBILITY;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-CRYSTALLIN B CHAIN; CATARACT; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC LINKAGE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 65949112482     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2008.222     Document Type: Article

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