✦ LIBER ✦

A Novel S115G Mutation of CGI-58 in a Turkish Patient with Dorfman–Chanarin Syndrome

✍ Scribed by Selma, Zied Ben; Yilmaz, Sebnem; Schischmanoff, Pierre Olivier; Blom, Astrid; Ozogul, Candan; Laroche, Liliane; Caux, Frédéric

Book ID: 110049932
Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 164 KB
Volume: 127
Category: Article
ISSN: 0022-202X
DOI: 10.1038/sj.jid.5700860

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel missense mutation (R94S) in theTAZ

Novel missense mutation (R94S) in theTAZ(G4.5) gene in a Japanese patient with Barth syndrome

✍ O. Sakamoto; T. Kitoh; T. Ohura; N. Ohya; K. Iinuma 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 68 KB

A novel mutation of the WRN gene in a Ch

A novel mutation of the WRN gene in a Chinese patient with Werner syndrome

✍ N. Zhao; F. Hao; T. Qu; Y.-G. Zuo; B-X. Wang 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 393 KB

Novel de novo nonsense mutation of MECP2

Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome

✍ Soo-Jeong Kim; Edwin H. Cook Jr. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 3 views

Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le

Identification of a novel BLM missense m

Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome

✍ Abdelhamid Barakat; Mouna Ababou; Rosine Onclercq; Stéphanie Dutertre; ElBekkay 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

Identification of a novel 2026G→C mutati

Identification of a novel 2026G→C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome

✍ Shinya Wakusawa; Ikuo Machida; Satoshi Suzuki; Hisao Hayashi; Motoyoshi Yano; Ke 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 279 KB

Novel mutation in the tyrosine kinase do

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome

✍ Andreas Zankl; Gudrun Jaeger; Luisa Bonafé; Eugen Boltshauser; Andrea Superti-Fu 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 2 views