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Results: 1 to 20 of 481

Similar articles for PubMed (Select 10649493)

1.

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

Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M.

Hum Mutat. 2000;15(2):166-72. Erratum in: Hum Mutat 2000;16(1):following 86.

PMID:
10649493
2.

Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.

Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M.

Am J Hum Genet. 1997 Nov;61(5):1095-101.

3.

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

Manga P, Kromberg J, Turner A, Jenkins T, Ramsay M.

Am J Hum Genet. 2001 Mar;68(3):782-7. Epub 2001 Feb 9.

4.

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.

Johanson HC, Chen W, Wicking C, Sturm RA.

J Hum Genet. 2010 Feb;55(2):103-11. doi: 10.1038/jhg.2009.130. Epub 2009 Dec 18.

PMID:
20019752
5.

P gene mutations associated with oculocutaneous albinism type II (OCA2).

Oetting WS, Garrett SS, Brott M, King RA.

Hum Mutat. 2005 Mar;25(3):323.

PMID:
15712365
6.
7.
8.

SLC45A2 variations in Indian oculocutaneous albinism patients.

Sengupta M, Chaki M, Arti N, Ray K.

Mol Vis. 2007 Aug 10;13:1406-11.

PMID:
17768386
9.

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.

Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH.

Nat Genet. 1994 Jun;7(2):176-9.

PMID:
7920637
10.
11.

The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

Kedda MA, Stevens G, Manga P, Viljoen C, Jenkins T, Ramsay M.

Am J Hum Genet. 1994 Jun;54(6):1078-84. Erratum in: Am J Hum Genet 1994 Sep;55(3):602.

12.

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.

Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B.

Hum Mutat. 2004 Feb;23(2):106-10.

PMID:
14722913
13.

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH, Spritz RA.

Hum Mol Genet. 1994 Nov;3(11):2047-51.

PMID:
7874125
14.

A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).

Kato A, Fukai K, Oiso N, Hosomi N, Saitoh S, Wada T, Shimizu H, Ishii M.

J Dermatol Sci. 2003 May;31(3):189-92.

PMID:
12727022
15.

Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.

Kagore F, Lund PM.

J Med Genet. 1995 Nov;32(11):859-61.

16.

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, Zhu W, Liu J, Bian X, Lian S, Li W.

J Invest Dermatol. 2010 Mar;130(3):716-24. doi: 10.1038/jid.2009.339. Epub 2009 Oct 29.

17.

Oculocutaneous albinism in an isolated Tonga community in Zimbabwe.

Lund PM, Puri N, Durham-Pierre D, King RA, Brilliant MH.

J Med Genet. 1997 Sep;34(9):733-5.

18.

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene.

Puri N, Durbam-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH.

Hum Genet. 1997 Oct;100(5-6):651-6.

PMID:
9341887
19.

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS.

Hum Genet. 2003 Nov;113(6):502-13. Epub 2003 Sep 10.

PMID:
13680365
20.

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".

Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ.

Am J Hum Genet. 1996 Jun;58(6):1145-56.

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