Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract [4]

Clinical Genetics

Volumn 60, Issue 6, 2001, Pages 476-478

  Evgrafov, O ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CRYSTALLIN; CONNEXIN 50; DNA; GAMMA CRYSTALLIN; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

CATARACT; CLINICAL EXAMINATION; CONTROLLED STUDY; CORNEA OPACITY; FAMILIAL DISEASE; FEMALE; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC DISORDER; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HUMAN; IRIS; LETTER; MALE; ONSET AGE; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; RUSSIAN FEDERATION; SINGLE STRAND CONFORMATION POLYMORPHISM; UNITED KINGDOM;

CATARACT; CHILD, PRESCHOOL; CONNEXINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; RUSSIA;

EID: 0035697326     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600614.x     Document Type: Letter

References (5)

1. The gamma-crystallins and human cataracts: A puzzle made clearer
2. A 5-base insertion in the gamma-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
3. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
4. A missense mutation in the human connexin 50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
5. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin