✦ LIBER ✦

Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria

✍ Scribed by Q. Liu; L. Jiang; W-L. Liu; X-J. Kang; Y. Ao; M. Sun; Y. Luo; Y. Song; W.H.Y. Lo; X. Zhang

Book ID: 108668692
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 311 KB
Volume: 154
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2006.07133.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ten Novel Mutations of the ADAR1 Gene in

Ten Novel Mutations of the ADAR1 Gene in Japanese Patients with Dyschromatosis Symmetrica Hereditaria

✍ Suzuki, Noriyuki; Suzuki, Tamio; Inagaki, Katsuhiko; Ito, Shiro; Kono, Michihiro 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 93 KB

Two novel splice site mutations of the A

Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria

✍ Xiao-Peng WANG; Yan LIU; Jun-Min WANG; Sheng-Xiang XIAO 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 French ⚖ 214 KB

Identification of two novel splice mutat

Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria

✍ H. Liu; X.-A. Fu; Y.-X. Yu; G.-Q. Yu; X.-X. Yan; H.-X. Liu; H.-Q. Tian; F.-R. Zh 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB

Seven novel mutations of the ADAR gene i

Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)

✍ Xue-Jun Zhang; Ping-Ping He; Ming Li; Chun-Di He; Kai-Lin Yan; Yong Cui; Sen Yan 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 505 KB

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we report

Six novel mutations of the ADAR1 gene in

Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: Histological observation and comparison of genotypes and clinical phenotypes

✍ Taisuke KONDO; Tamio SUZUKI; Yoshihiko MITSUHASHI; Shiro ITO; Michihiro KONO; Ma 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 French ⚖ 536 KB

A novel mutation of the DSRAD gene in a

A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

✍ M. Li; Y. X. Jiang; J. B. Liu; S. Yang; P. P. He; M. Gao; S. C. Wei; K. L. Yan; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB