title: Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
authors.affiliation: Dr. ALM Postgraduate Institute of Basic Medical Sciences, Department of Genetics, University of Madras, Taramani, Chennai, India.
authors.forename: Sathiyavedu T
authors.initials: ST
authors.lastname: Santhiya
authors.forename: Ganesan Senthil
authors.initials: GS
authors.lastname: Kumar
authors.forename: Pridhvi
authors.initials: P
authors.lastname: Sudhakar
authors.forename: Navnit
authors.initials: N
authors.lastname: Gupta
authors.forename: Norman
authors.initials: N
authors.lastname: Klopp
authors.forename: Thomas
authors.initials: T
authors.lastname: Illig
authors.forename: Torben
authors.initials: T
authors.lastname: Söker
authors.forename: Marco
authors.initials: M
authors.lastname: Groth
authors.forename: Matthias
authors.initials: M
authors.lastname: Platzer
authors.forename: Puthiya M
authors.initials: PM
authors.lastname: Gopinath
authors.forename: Jochen
authors.initials: J
authors.lastname: Graw
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics; D005190:Family; D017809:Fatal Outcome; D005260:Female; D000076249:Heat Shock Transcription Factors; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics; D055815:Young Adult; D038206:beta-Crystallin B Chain / Q000737:chemistry / Q000235:genetics*; D038222:gamma-Crystallins / Q000737:chemistry / Q000235:genetics
chemical_list: C504903:CRYGD protein, human; D017630:Connexins; D004268:DNA-Binding Proteins; C102948:HSF4 protein, human; D000076249:Heat Shock Transcription Factors; D014157:Transcription Factors; D038206:beta-Crystallin B Chain; C113634:beta-crystallin B2; C082917:GJA3 protein, human; D038222:gamma-Crystallins