Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
Santhiya
Sathiyavedu T
ST
Dr. ALM Postgraduate Institute of Basic Medical Sciences, Department of Genetics, University of Madras, Taramani, Chennai, India.
Kumar
Ganesan Senthil
GS
Sudhakar
Pridhvi
P
Gupta
Navnit
N
Klopp
Norman
N
Illig
Thomas
T
Söker
Torben
T
Groth
Marco
M
Platzer
Matthias
M
Gopinath
Puthiya M
PM
Graw
Jochen
J
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
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