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Results: 1 to 20 of 242

Related Citations for PubMed (Select 7902671)

1.

Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA.

Am J Hum Genet. 1993 Dec;53(6):1173-9.

2.

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.

Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA.

Am J Med Genet. 1992 Jul 15;43(5):865-71.

PMID:
1642278
3.

Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism.

Park KC, Park SK, Lee YS, Youn SW, Park BS, Kim KH, Lee ST.

Jpn J Hum Genet. 1996 Sep;41(3):299-305.

PMID:
8996965
4.

Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.

Park SK, Lee KH, Park KC, Lee JS, Spritz RA, Lee ST.

Mol Cells. 1997 Apr 30;7(2):187-91.

5.

Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.

Chaki M, Mukhopadhyay A, Chatterjee S, Das M, Samanta S, Ray K.

Mol Vis. 2005 Jul 19;11:531-4.

6.

SLC45A2 variations in Indian oculocutaneous albinism patients.

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

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

7.

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
8.

OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.

Chaki M, Sengupta M, Mukhopadhyay A, Subba Rao I, Majumder PP, Das M, Samanta S, Ray K.

Ann Hum Genet. 2006 Sep;70(Pt 5):623-30.

PMID:
16907708
10.

R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism.

Matsunaga J, Dakeishi M, Shimizu H, Tomita Y.

J Dermatol Sci. 1996 Nov;13(2):134-9.

PMID:
8953413
11.

A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).

Nakamura E, Miyamura Y, Matsunaga J, Kano Y, Dakeishi-Hara M, Tanita M, Kono M, Tomita Y.

J Dermatol Sci. 2002 Feb;28(2):102-5.

PMID:
11858948
12.

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

Camand O, Marchant D, Boutboul S, PĂ©quignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier JL, Heon E, Abitbol M.

Hum Mutat. 2001 Apr;17(4):352.

PMID:
11295837
13.

[Human oculocutaneous albinism. From clinical observation to molecular biology].

Aquaron R.

Bull Soc Pathol Exot. 1993;86(5):313-26. Review. French.

PMID:
8124097
14.
15.

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA.

Am J Hum Genet. 1994 Apr;54(4):586-94.

16.

Tyrosinase gene mutations causing oculocutaneous albinisms.

Tomita Y.

J Invest Dermatol. 1993 Feb;100(2 Suppl):186S-190S. Review.

PMID:
8433007
17.

Electron microscopic DOPA reaction test for oculocutaneous albinism.

Takizawa Y, Kato S, Matsunaga J, Aozaki R, Tomita Y, Nishikawa T, Shimizu H.

Arch Dermatol Res. 2000 Jun;292(6):301-5.

PMID:
10929771
18.

Mutations of the tyrosinase gene in oculocutaneous albinism.

Shibahara S.

Pigment Cell Res. 1992 Nov;5(5 Pt 2):279-83. Review.

PMID:
1292010
20.
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