484 related articles for article (PubMed ID: 11295837)
1. Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
Camand O; Marchant D; Boutboul S; Péquignot 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. PubMed ID: 11295837
[TBL] [Abstract][Full Text] [Related]
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; 43(5):865-71. PubMed ID: 1642278
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 8996965
[TBL] [Abstract][Full Text] [Related]
4. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
King RA; Mentink MM; Oetting WS
Mol Biol Med; 1991 Feb; 8(1):19-29. PubMed ID: 1943686
[TBL] [Abstract][Full Text] [Related]
5. Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location.
King RA; Olds DP
Am J Med Genet; 1985 Jan; 20(1):49-55. PubMed ID: 3918447
[TBL] [Abstract][Full Text] [Related]
6. [Human oculocutaneous albinism. From clinical observation to molecular biology].
Aquaron R
Bull Soc Pathol Exot; 1993; 86(5):313-26. PubMed ID: 8124097
[TBL] [Abstract][Full Text] [Related]
7. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
Oetting WS; King RA
Hum Mutat; 1993; 2(1):1-6. PubMed ID: 8477259
[TBL] [Abstract][Full Text] [Related]
8. Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.
Tsai CH; Tsai FJ; Wu JY; Lin SP; Chang JG; Yang CF; Lee CC
Hum Mutat; 1999 Dec; 14(6):542. PubMed ID: 10571953
[TBL] [Abstract][Full Text] [Related]
9. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
Lee ST; Nicholls RD; Bundey S; Laxova R; Musarella M; Spritz RA
N Engl J Med; 1994 Feb; 330(8):529-34. PubMed ID: 8302318
[TBL] [Abstract][Full Text] [Related]
10. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
Opitz S; Käsmann-Kellner B; Kaufmann M; Schwinger E; Zühlke C
Hum Mutat; 2004 Jun; 23(6):630-1. PubMed ID: 15146472
[TBL] [Abstract][Full Text] [Related]
11. The molecular genetics of albinism and piebaldism.
Tomita Y
Arch Dermatol; 1994 Mar; 130(3):355-8. PubMed ID: 8129415
[TBL] [Abstract][Full Text] [Related]
12. 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; 11():531-4. PubMed ID: 16056219
[TBL] [Abstract][Full Text] [Related]
13. Mutation analysis of a Chinese family with oculocutaneous albinism.
Wang X; Zhu Y; Shen N; Peng J; Wang C; Liu H; Lu Y
Oncotarget; 2016 Dec; 7(51):84981-84988. PubMed ID: 27829221
[TBL] [Abstract][Full Text] [Related]
14. [Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism].
Dai C; Li W; Gao B; Li LY; Lu GX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):373-7. PubMed ID: 18683130
[TBL] [Abstract][Full Text] [Related]
15. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
Khordadpoor-Deilamani F; Akbari MT; Karimipoor M; Javadi G
Mol Vis; 2015; 21():730-5. PubMed ID: 26167114
[TBL] [Abstract][Full Text] [Related]
16. Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.
Goto M; Sato-Matsumura KC; Sawamura D; Yokota K; Nakamura H; Shimizu H
J Dermatol Sci; 2004 Sep; 35(3):215-20. PubMed ID: 15381243
[TBL] [Abstract][Full Text] [Related]
17. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.
Oetting WS; Fryer JP; King RA
Hum Mutat; 1998; 12(6):433-4. PubMed ID: 10671066
[TBL] [Abstract][Full Text] [Related]
18. [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
Sanabria D; Groot H; Guzmán J; Lattig MC
Biomedica; 2012 Jun; 32(2):269-76. PubMed ID: 23242301
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 16907708
[TBL] [Abstract][Full Text] [Related]
20. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
Sundaresan P; Sil AK; Philp AR; Randolph MA; Natchiar G; Namperumalsamy P
Mol Vis; 2004 Dec; 10():1005-10. PubMed ID: 15635296
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]