✦ LIBER ✦

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

✍ Scribed by Taisuke KONDO; Tamio SUZUKI; Yoshihiko MITSUHASHI; Shiro ITO; Michihiro KONO; Mayumi KOMINE; Hirotaka AKITA; Yasushi TOMITA

Book ID: 108576446
Publisher: John Wiley and Sons
Year: 2008
Tongue: French
Weight: 536 KB
Volume: 35
Category: Article
ISSN: 0385-2407
DOI: 10.1111/j.1346-8138.2008.00493.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 mutations and evidence for hap

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

✍ Q. Liu; L. Jiang; W-L. Liu; X-J. Kang; Y. Ao; M. Sun; Y. Luo; Y. Song; W.H.Y. Lo 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 311 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

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

A novel mutation of the GAA gene in a Fi

A novel mutation of the GAA gene in a Finnish late-onset pompe disease patient: Clinical phenotype and follow-up with enzyme replacement therapy

✍ Mari P. Korpela; Anders Paetau; Mervi I. Löfberg; Marjut H. Timonen; Antti E. La 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB

## Abstract Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α‐glucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the late‐onset form of Pompe disease. Molecular genetic analys