Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.
Santhiya
Sathiyavedu T
ST
Dr. ALM Postgraduate Institute of Basic Medical Sciences, Department of Genetics, University of Madras, Taramani, Chennai, India.
Manisastry
Shyam Manohar
SM
Rawlley
Deepika
D
Malathi
Raghunathan
R
Anishetty
Sharmila
S
Gopinath
Puthiya M
PM
Vijayalakshmi
Perumalsamy
P
Namperumalsamy
Perumalsamy
P
Adamski
Jerzy
J
Graw
Jochen
J
D000293:Adolescent; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007194:India; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011446:Prospective Studies; D038206:beta-Crystallin B Chain / Q000235:genetics*
D038206:beta-Crystallin B Chain