Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 3, 2009, Pages 1058-1064

  Grønskov, Karen ^a   Ek, Jakob ^a   Sand, Annie ^a   Scheller, Rudolf ^b   Bygum, Anette ^b   Brixen, Kim ^b   Brondum Nielsen, Karen ^a   Rosenberg, Thomas ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MATP GENE; OCA2 GENE; OCULOCUTANEOUS ALBINISM; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TYR GENE; TYRP1 GENE; ALLELE; DENMARK; GENETICS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; INFANT; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE; REGISTER; RETROSPECTIVE STUDY;

ANTIPORTER; CARRIER PROTEIN; MEMBRANE PROTEIN; OCA2 PROTEIN, HUMAN; OXIDOREDUCTASE; SLC24A5 PROTEIN, HUMAN; SLC45A2 PROTEIN, HUMAN; TUMOR ANTIGEN; TYROSINE; TYRP1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ALBINISM, OCULOCUTANEOUS; ALLELES; ANTIGENS, NEOPLASM; ANTIPORTERS; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DENMARK; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION; OXIDOREDUCTASES; PEDIGREE; PHENOTYPE; PREVALENCE; REGISTRIES; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TYROSINE;

EID: 62649158351     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-2639     Document Type: Article

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