Genetic heterogeneity in microcornea-cataract: Five novel mutations in CRYAA, CRYGD, and GJA8

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 9, 2007, Pages 3937-3944

  Hansen, Lars ^a   Yao, Wenliang ^b   Eiberg, Hans ^a   Kjaer, Klaus Wilbrandt ^a   Baggesen, Kirsten ^c   Hejtmancik, J Fielding ^b   Rosenberg, Thomas ^d  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c AALBORG UNIVERSITY HOSPITAL   (Denmark)

^d JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; CONNEXIN 47; CRYSTALLIN; GAMMA CRYSTALLIN; GAP JUNCTION PROTEIN; GENOMIC DNA; RESTRICTION ENDONUCLEASE; SMALL HEAT SHOCK PROTEIN; CONNEXIN 50; CRYAA PROTEIN, HUMAN; CRYSTALLIN GAMMAD, HUMAN; EYE PROTEIN; UNCLASSIFIED DRUG;

ANTERIOR EYE SEGMENT; ARTICLE; BLOOD SAMPLING; CATARACT; CORNEA DISEASE; DATA BASE; DISEASE ASSOCIATION; DNA SEQUENCE; EYE DISEASE; EYE MALFORMATION; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC LINKAGE; HUMAN; LENS; MICROCORNEA; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; AMINO ACID SEQUENCE; CHROMOSOME MAP; CONGENITAL MALFORMATION; CORNEA; DOMINANT GENE; FEMALE; GENETICS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

AMINO ACID SEQUENCE; CATARACT; CHROMOSOME MAPPING; CONNEXINS; CORNEA; CRYSTALLINS; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; EYE PROTEINS; FEMALE; GENES, DOMINANT; GENETIC HETEROGENEITY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 35148832522     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.07-0013     Document Type: Article

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