123 related articles for article (PubMed ID: 16378950)
1. [Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II].
Duan HL; Zheng H; Li HY
Yi Chuan; 2005 Nov; 27(6):984-8. PubMed ID: 16378950
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 15712365
[TBL] [Abstract][Full Text] [Related]
3. [A new form of Oculocutaneous albinism, OCA4].
Li HY; Duan HL; Zheng H
Yi Chuan; 2006 Sep; 28(9):1149-52. PubMed ID: 16963427
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
Rimoldi V; Straniero L; Asselta R; Mauri L; Manfredini E; Penco S; Gesu GP; Del Longo A; Piozzi E; Soldà G; Primignani P
Gene; 2014 Mar; 537(1):79-84. PubMed ID: 24361966
[TBL] [Abstract][Full Text] [Related]
6. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
Suzuki T; Miyamura Y; Matsunaga J; Shimizu H; Kawachi Y; Ohyama N; Ishikawa O; Ishikawa T; Terao H; Tomita Y
J Invest Dermatol; 2003 May; 120(5):781-3. PubMed ID: 12713581
[TBL] [Abstract][Full Text] [Related]
7. Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.
Oetting WS; Gardner JM; Fryer JP; Ching A; Durham-Pierre D; King RA; Brilliant MH
Hum Mutat; 1998; 12(6):434. PubMed ID: 10671067
[TBL] [Abstract][Full Text] [Related]
8. Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
Renugadevi K; Sil AK; Perumalsamy V; Sundaresan P
Hum Genet; 2009 Apr; 125(3):340. PubMed ID: 19309806
[No Abstract] [Full Text] [Related]
9. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
Mauri L; Barone L; Al Oum M; Del Longo A; Piozzi E; Manfredini E; Stanzial F; Benedicenti F; Penco S; Patrosso MC
Gene; 2014 Jan; 533(1):398-402. PubMed ID: 24096233
[TBL] [Abstract][Full Text] [Related]
10. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
Spritz RA; Fukai K; Holmes SA; Luande J
Am J Hum Genet; 1995 Jun; 56(6):1320-3. PubMed ID: 7762554
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 20019752
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 12727022
[TBL] [Abstract][Full Text] [Related]
13. [A novel P gene mutation in a Chinese family with oculocutaneous albinism].
Duan HL; Li HY; Wu WQ; Zheng H; Chen Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Dec; 23(6):614-7. PubMed ID: 17160937
[TBL] [Abstract][Full Text] [Related]
14. Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
Wei AH; Yang XM; Lian S; Li W
Chin Med J (Engl); 2013 Jan; 126(2):226-30. PubMed ID: 23324268
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
Ray K; Sengupta M
Hum Genet; 2010 Apr; 127(4):487-8. PubMed ID: 21491617
[No Abstract] [Full Text] [Related]
18. [Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].
Li HY; Wei HY; Zheng H; Meng S; Jiang WY; Chen LM; Duan HL
Zhonghua Yi Xue Za Zhi; 2007 Apr; 87(16):1123-5. PubMed ID: 17672996
[TBL] [Abstract][Full Text] [Related]
19. A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
Kawai M; Suzuki T; Ito S; Inagaki K; Suzuki N; Tomita Y
Dermatology; 2005; 210(4):322-3. PubMed ID: 15942220
[TBL] [Abstract][Full Text] [Related]
20. Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.
Rothammer S; Kunz E; Seichter D; Krebs S; Wassertheurer M; Fries R; Brem G; Medugorac I
Genet Sel Evol; 2017 Oct; 49(1):73. PubMed ID: 28982372
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]