Two novel mutations detected in Japanese patients with oculocutaneous albinism-Reference-Cited by-同舟云学术

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Two novel mutations detected in Japanese patients with oculocutaneous albinism

Published:2006-11 Issue:2 Volume:44 Page:116-118
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Ito Shiro,Suzuki Tamio,Inagaki Katsuhiko,Suzuki Noriyuki,Kono Michihiro,Tomita Yasushi,Iwamoto Takao,Mochizuki Narutaka

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference8 articles.

1. Genetics of pigmentary disorders;Tomita;Am J Med Genet,2004

2. Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism;Goto;J Dermatol Sci,2004

3. Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA;Suzuki;J Dermatol Sci,2003

4. A non-radioactive method for detection of single-strand conformation polymorphisms (SSCPs) and heteroduplexes;Lee;Mol Cells,1995

5. Human oculocutaneous albinism caused by a single base insertion in the tyrosinase gene;Tomita;Biochem Biophys Res Commun,1989

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain;Journal of Dermatological Science;2011-11

2. Two children with a mild or moderate piebaldism phenotype and a father without leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT;European Journal of Dermatology;2011-05

3. A Japanese piebald patient with auburn hair colour associated with a novel mutation p.P832L in theKITgene and a homozygous variant p.I120T in theMC1Rgene;British Journal of Dermatology;2009-08

4. A novel MITF splice site mutation in a family with Waardenburg syndrome;Journal of Dermatological Science;2008-10

5. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4;Journal of Dermatological Science;2008-07

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