158 related articles for article (PubMed ID: 1409411)
1. The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism.
Giebel LB; Spritz RA
Pigment Cell Res; 1992; Suppl 2():101-6. PubMed ID: 1409411
[No Abstract] [Full Text] [Related]
2. [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]
3. A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
Oetting WS; Fryer JP; King RA
Hum Mol Genet; 1993 Jul; 2(7):1047-8. PubMed ID: 8364542
[No Abstract] [Full Text] [Related]
4. 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]
5. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
Oetting WS; Pietsch J; Brott MJ; Savage S; Fryer JP; Summers CG; King RA
Am J Med Genet A; 2009 Mar; 149A(3):466-9. PubMed ID: 19208379
[TBL] [Abstract][Full Text] [Related]
6. Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.
Chaki M; Sengupta M; Mondal M; Bhattacharya A; Mallick S; Bhadra R; ; Ray K
J Invest Dermatol; 2011 Jan; 131(1):260-2. PubMed ID: 20861851
[No Abstract] [Full Text] [Related]
7. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
Giebel LB; Musarella MA; Spritz RA
J Med Genet; 1991 Jul; 28(7):464-7. PubMed ID: 1832718
[TBL] [Abstract][Full Text] [Related]
8. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Oetting WS
Pigment Cell Res; 2000 Oct; 13(5):320-5. PubMed ID: 11041207
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 7902671
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 11858948
[TBL] [Abstract][Full Text] [Related]
11. Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene.
Tomita Y; Takeda A; Matsunaga J; Okinaga S; Shibahara S; Tagami H
Pigment Cell Res; 1992; Suppl 2():96-100. PubMed ID: 1409445
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
Spritz RA; Oh J; Fukai K; Holmes SA; Ho L; Chitayat D; France TD; Musarella MA; Orlow SJ; Schnur RE; Weleber RG; Levin AV
Hum Mutat; 1997; 10(2):171-4. PubMed ID: 9259202
[No Abstract] [Full Text] [Related]
13. Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1.
Ray K; Chaki M; Sengupta M
Hum Genet; 2007 Dec; 122(5):555. PubMed ID: 18383608
[No Abstract] [Full Text] [Related]
14. Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism.
Park KC; Kim KH; Lee YS; Kwon BS
J Inherit Metab Dis; 1994; 17(1):123-6. PubMed ID: 8051921
[No Abstract] [Full Text] [Related]
15. Molecular structure of the tyrosinase gene.
Takeuchi T
Pigment Cell Res; 1992; Suppl 2():61-6. PubMed ID: 1409440
[No Abstract] [Full Text] [Related]
16. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
Patrosso MC; Lando G; Penco S
Hum Genet; 2008 Oct; 124(3):294. PubMed ID: 18846608
[No Abstract] [Full Text] [Related]
17. Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism.
King RA; Oetting WS
Pigment Cell Res; 1992; Suppl 2():249-53. PubMed ID: 1409426
[TBL] [Abstract][Full Text] [Related]
18. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
Giebel LB; Tripathi RK; King RA; Spritz RA
J Clin Invest; 1991 Mar; 87(3):1119-22. PubMed ID: 1900309
[TBL] [Abstract][Full Text] [Related]
19. 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; 7(2):187-91. PubMed ID: 9163730
[TBL] [Abstract][Full Text] [Related]
20. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.
Schnur RE; Sellinger BT; Holmes SA; Wick PA; Tatsumura YO; Spritz RA
J Invest Dermatol; 1996 May; 106(5):1137-40. PubMed ID: 8618053
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
