These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
229 related articles for article (PubMed ID: 14722913)
1. 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):106-110. PubMed ID: 14722913 [TBL] [Abstract][Full Text] [Related]
2. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Newton JM; Cohen-Barak O; Hagiwara N; Gardner JM; Davisson MT; King RA; Brilliant MH Am J Hum Genet; 2001 Nov; 69(5):981-8. PubMed ID: 11574907 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Inagaki K; Suzuki T; Shimizu H; Ishii N; Umezawa Y; Tada J; Kikuchi N; Takata M; Takamori K; Kishibe M; Tanaka M; Miyamura Y; Ito S; Tomita Y Am J Hum Genet; 2004 Mar; 74(3):466-71. PubMed ID: 14961451 [TBL] [Abstract][Full Text] [Related]
5. [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]
6. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. Costin GE; Valencia JC; Vieira WD; Lamoreux ML; Hearing VJ J Cell Sci; 2003 Aug; 116(Pt 15):3203-12. PubMed ID: 12829739 [TBL] [Abstract][Full Text] [Related]
7. Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations. Yang Q; Yi S; Li M; Xie B; Luo J; Wang J; Rong X; Zhang Q; Qin Z; Hang L; Feng S; Fan X BMC Med Genet; 2019 Jun; 20(1):106. PubMed ID: 31196117 [TBL] [Abstract][Full Text] [Related]
8. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Rooryck C; Roudaut C; Robine E; Müsebeck J; Arveiler B Pigment Cell Res; 2006 Jun; 19(3):239-42. PubMed ID: 16704458 [TBL] [Abstract][Full Text] [Related]
9. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. Shah SA; Raheem N; Daud S; Mubeen J; Shaikh AA; Baloch AH; Nadeem A; Tayyab M; Babar ME; Ahmad J Clin Exp Dermatol; 2015 Oct; 40(7):774-80. PubMed ID: 25703744 [TBL] [Abstract][Full Text] [Related]
10. SLC45A2 variations in Indian oculocutaneous albinism patients. Sengupta M; Chaki M; Arti N; Ray K Mol Vis; 2007 Aug; 13():1406-11. PubMed ID: 17768386 [TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 10649493 [TBL] [Abstract][Full Text] [Related]
12. Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India. Dutta T; Ganguly K; Saha A; Sil A; Ray K; Sengupta M Mol Biol Rep; 2024 Jul; 51(1):818. PubMed ID: 39014059 [TBL] [Abstract][Full Text] [Related]
13. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. Renugadevi K; Sil AK; Perumalsamy V; Sundaresan P Mol Vis; 2010 Aug; 16():1514-24. PubMed ID: 20806075 [TBL] [Abstract][Full Text] [Related]
14. Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. Sengupta M; Mondal M; Jaiswal P; Sinha S; Chaki M; Samanta S; Ray K Br J Dermatol; 2010 Sep; 163(3):487-94. PubMed ID: 20426782 [TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 13680365 [TBL] [Abstract][Full Text] [Related]
16. Mutational analysis of oculocutaneous albinism: a compact review. Kamaraj B; Purohit R Biomed Res Int; 2014; 2014():905472. PubMed ID: 25093188 [TBL] [Abstract][Full Text] [Related]
18. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. Wang Y; Wang Z; Chen M; Fan N; Yang J; Liu L; Wang Y; Liu X PLoS One; 2015; 10(4):e0125651. PubMed ID: 25919014 [TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 19865097 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]