Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity

Molecular Vision

Volumn 18, Issue , 2012, Pages 2931-2936

  AlFadhli, Suad ^a   Abdelmoaty, Sidky ^b   Al Hajeri, Amal ^a   Behbehani, Abdulmutalib ^a,b   Alkuraya, Fowzan ^c  

^a KUWAIT UNIVERSITY   (Kuwait)

^b MINISTRY OF HEALTH   (Kuwait)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CRYSTALLIN; CRYSTALLIN BETA A2; CRYSTALLIN GAMMA B; GAMMA CRYSTALLIN; TRINUCLEOTIDE; UNCLASSIFIED DRUG;

ANTERIOR POLAR CATARACT; ARTICLE; AUTOSOMAL DOMINANT CONGENITAL CATARACT; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 2Q; CLINICAL ARTICLE; COMPLETE CATARACT; CONGENITAL CATARACT; CONTROLLED STUDY; CRYGB GENE; DNA POLYMORPHISM; EXON; GENE CLUSTER; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOME ANALYSIS; HUMAN; INHERITANCE; INTRON; KUWAIT; LAMELLAR CATARACT; LINKAGE ANALYSIS; MICROARRAY ANALYSIS; MOLECULAR CLONING; PHENOTYPE; PRIORITY JOURNAL; TRINUCLEOTIDE POLYMORPHISM;

CATARACT; CHROMOSOMES, HUMAN, PAIR 2; EXONS; FEMALE; GAMMA-CRYSTALLINS; GENES, DOMINANT; GENETIC LINKAGE; GENOTYPE; HETEROZYGOTE; HUMANS; KUWAIT; LOD SCORE; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 84871529940     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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