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Rufous Oculocutaneous Albinism in Southern African Blacks Is Caused by Mutations in the TYRP1 Gene
24/24 checkable references clean · checked 2026-08-18
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
12 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 24 checked references that resolve
resolves10.1016/0888-7543(88)90153-X
Human tyrosinase gene, mapped to chromosome 11 (q14 → q21), defines second region of homology with mouse chromosome 7
resolves10.1111/j.1432-1033.1994.tb19922.x
Molecular characterization of a human tyrosinase‐related‐protein‐2 cDNA
resolves10.1016/0006-291X(91)91803-K
Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human Chromosome 9p22-pter
resolves10.1038/ng0694-176
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
resolves10.1073/pnas.87.12.4809
Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity.
resolves10.1073/pnas.85.12.4392
A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse.
resolves10.1016/S0021-9258(17)35295-X
Tyrosinases from two different loci are expressed by normal and by transformed melanocytes.
resolves10.1016/S0021-9258(17)32408-0
A new enzymatic function in the melanogenic pathway. The 5,6-dihydroxyindole-2-carboxylic acid oxidase activity of tyrosinase-related protein-1 (TRP1).
resolves10.1111/j.1600-0749.1993.tb00604.x
An Ultrastructural Study of Melanocytes and Melanosomes in the Skin and Hair Bulbs of Rufous Albinos
resolves10.1111/j.1399-0004.1980.tb00145.x
Albinism in Nigeria with delineation of new recessive oculocutaneous type
resolves10.1016/0888-7543(92)90228-K
Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization
resolves10.1093/hmg/1.1.67
Dinucleotide repeat polymorphism at the GABA<sub>A</sub> receptor β3 (GABRB3) locus in the Angelman/Prader— Willi region (AS/PWS) of chromosome 15
resolves10.1038/361072a0
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
resolves10.1006/geno.1994.1266
Assignment of the Tyrosinase-Related Protein-2 Gene (TYRP2) to Human Chromosome 13q31-q32 by Fluorescence in Situ Hybridization: Extended Synteny with Mouse Chromosome 14
resolves10.1006/geno.1995.1211
Chromosomal Structure of the Human TYRP1 and TYRP2 Loci and Comparison of the Tyrosinase-Related Protein Gene Family
resolves10.1007/BF00209417
Detection of a Tsp509I polymorphism in the 3? UTR of the human tyrosinase related protein-1 (TYRP) gene
resolves10.1242/jcs.106.1.153
The mouse <i>brown</i> (<i>b</i>) locus protein has dopachrome tautomerase activity and is located in lysosomes in transfected fibroblasts
The 12 references without a DOI — listed, not checked
no DOI — not checkedMutations in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as “OCA3.”
no DOI — not checked10.1086/301603_bib5
no DOI — not checkedThe tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African Negroids
no DOI — not checkedAlbinism
no DOI — not checkedPrevalence of albinism in the South African Negro
no DOI — not checkedBrown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids
no DOI — not checked10.1086/301603_bib25
no DOI — not checkedThe tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
no DOI — not checkedGenetic disorders of pigmentation
no DOI — not checkedAnomalies of pigmentation among natives of Nyasaland
no DOI — not checkedAn intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids
no DOI — not checkedDinucleotide repeat polymorphism at the D9S43 locus
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