Identification of P gene mutations in individuals with oculocutaneous albinism in Sub-Saharan Africa

Human Mutation

Volumn 15, Issue 2, 2000, Pages 166-172

  Kerr, Robyn ^a   Stevens, Gwynneth ^a   Manga, Prashiela ^a   Salm, Sarah ^a   John, Premila ^a   Haw, Tabitha ^a   Ramsay, Michele ^a  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

Author keywords

Africa; Albinism; BOCA; Brown OCA; OCA1; OCA2; OCA3; Oculocutaneous albinism; P gene; ROCA; Rufous OCA; TYR; TYRP1

Indexed keywords

AFRICA; ARTICLE; CLINICAL TRIAL; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPIGMENTATION; MAJOR CLINICAL STUDY; OCULOCUTANEOUS ALBINISM; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION;

AFRICA SOUTH OF THE SAHARA; AFRICAN CONTINENTAL ANCESTRY GROUP; ALBINISM, OCULOCUTANEOUS; AMINO ACID SUBSTITUTION; CARRIER PROTEINS; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; GENE FREQUENCY; GENES, RECESSIVE; GENOTYPE; HUMANS; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; PIGMENTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 0033973776     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z     Document Type: Article

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