Mutation analysis of congenital cataracts in Indian families: Identification of SNPs and a new causative allele in CRYBB2 gene

Investigative Ophthalmology and Visual Science

Volumn 45, Issue 10, 2004, Pages 3599-3607

  Santhiya, Sathiyavedu T ^a   Manisastry, Shyam Manohar ^a   Rawlley, Deepika ^a   Malathi, Raghunathan ^a   Anishetty, Sharmila ^b   Gopinath, Puthiya M ^a,e   Vijayalakshmi, Perumalsamy ^c   Namperumalsamy, Perumalsamy ^c   Adamski, Jerzy ^d   Graw, Jochen ^d  

^a UNIVERSITY OF MADRAS   (India)

^b ANNA UNIVERSITY   (India)

^c ARAVIND EYE HOSPITAL   (India)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e MANIPAL UNIVERSITY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BETA CRYSTALLIN; CYSTEINE; GENOMIC DNA; LEUCINE; MUTANT PROTEIN;

ALLELE; ARTICLE; CATARACT; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; CRYBB2 GENE; CRYG A GENE; CRYG B GENE; CRYG C GENE; CRYG D GENE; DISULFIDE BOND; EXON; FAMILY; GENE; GJA8 GENE; HUMAN; HUMAN CELL; HYDROGEN BOND; HYDROPATHY; HYDROPHOBICITY; INDIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN STRUCTURE; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOLUBILITY; TRANSLATION REGULATION;

ADOLESCENT; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; BETA-CRYSTALLIN B CHAIN; CATARACT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; INDIA; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES;

EID: 4644261839     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-0207     Document Type: Article

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