scholarly article | Q13442814 |
case report | Q2782326 |
P50 | author | Michèle Ramsay | Q42316225 |
P2093 | author name string | Jenkins T | |
Ramsay M | |||
Manga P | |||
Turner A | |||
Kromberg J | |||
P2860 | cites work | Organization and sequence of the human P gene and identification of a new family of transport proteins | Q24317332 |
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism | Q24320016 | ||
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 gene | Q24677297 | ||
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa | Q28143429 | ||
Dinucleotide repeat polymorphism at the human TYRP1 locus | Q28235857 | ||
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism | Q28238259 | ||
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 | Q28248338 | ||
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis | Q31165084 | ||
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 gene | Q40509738 | ||
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 Africa | Q44456206 | ||
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 syndrome | Q69371935 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Southern Africa | Q27394 |
oculocutaneous albinism | Q2017741 | ||
P304 | page(s) | 782-787 | |
P577 | publication date | 2001-02-09 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified | |
P478 | volume | 68 |