A comprehensive genetic study of autosomal recessive ocular albinism in caucasian patients

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 3, 2008, Pages 868-872

  Hutton, Saunie M ^a   Spritz, Richard A ^a  

^a UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; GLUTAMINE; CARRIER PROTEIN; MEMBRANE PROTEIN; MONOPHENOL MONOOXYGENASE; OCA2 PROTEIN, HUMAN; OXIDOREDUCTASE; SLC45A2 PROTEIN, HUMAN; TUMOR ANTIGEN; TYRP1 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE OCULAR ALBINISM; CLINICAL ARTICLE; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; OCA2 GENE; OCULAR ALBINISM; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SILV GENE; SLC45A2 GENE; TYR GENE; TYRP1 GENE; CAUCASIAN; GENETICS; MUTATION; POLYMERASE CHAIN REACTION; RECESSIVE GENE;

ALBINISM, OCULAR; ANTIGENS, NEOPLASM; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE TRANSPORT PROTEINS; MONOPHENOL MONOOXYGENASE; MUTATION; OXIDOREDUCTASES; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 41949098097     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-0791     Document Type: Article

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