In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified

scientific article

In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified is …
instance of (P31):
scholarly articleQ13442814
case reportQ2782326

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P356DOI10.1086/318800
P932PMC publication ID1274491
P698PubMed publication ID11179026
P5875ResearchGate publication ID12151896

P50authorMichèle RamsayQ42316225
P2093author name stringJenkins T
Ramsay M
Manga P
Turner A
Kromberg J
P2860cites workOrganization and sequence of the human P gene and identification of a new family of transport proteinsQ24317332
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinismQ24320016
Mutation 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"Q24675211
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 geneQ24677297
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan AfricaQ28143429
Dinucleotide repeat polymorphism at the human TYRP1 locusQ28235857
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinismQ28238259
Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: extended synteny with mouse chromosome 14Q28248338
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysisQ31165084
Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24].Q36066577
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.Q36762586
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.Q39490178
Dinucleotide repeat polymorphism at the human tyrosinase geneQ40509738
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.Q41863553
Red or rufous albinism in southern AfricaQ44456206
Albinism in Nigeria with delineation of new recessive oculocutaneous type.Q46945844
Segregation analysis of brown oculocutaneous albinism.Q50698441
Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndromeQ69371935
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectSouthern AfricaQ27394
oculocutaneous albinismQ2017741
P304page(s)782-787
P577publication date2001-02-09
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleIn Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified
P478volume68