✦ LIBER ✦

PMM2 intronic branch-site mutations in CDG-Ia

✍ Scribed by Sandrine Vuillaumier-Barrot; Christiane Le Bizec; Pascale De Lonlay; Nathalie Madinier-Chappat; Anne Barnier; Thierry Dupré; Geneviève Durand; Nathalie Seta

Book ID: 116987777
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 201 KB
Volume: 87
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2005.10.015

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in PMM2 that cause congenital

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

✍ G. Matthijs; E. Schollen; C. Bjursell; A. Erlandson; H. Freeze; F. Imtiaz; S. Kj 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 345 KB 👁 1 views

The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [

Characterization of two unusual truncati

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

✍ Els Schollen; Liesbeth Keldermans; François Foulquier; Paz Briones; Amparo Chaba 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 368 KB

Lack of Hardy-Weinberg equilibrium for t

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

✍ Schollen, Els; Kjaergaard, Susanne; Legius, Eric; Schwartz, Marianne; Matthijs, 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 74 KB

Expression analysis revealing destabiliz

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

✍ Ana Isabel Vega; Celia Pérez-Cerdá; David Abia; Alejandra Gámez; Paz Briones; Ra 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 434 KB

Should PMM2-deficiency (CDG Ia) be searc

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

✍ Nadia Léticée; Bettina Bessières-Grattagliano; Thierry Dupré; Sandrine Vuillaumi 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 519 KB

Early fatal course in siblings with CDG-

Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings

✍ Donald Wurm; Andrea Hänsgen; Yoo-Jin Kim; Angelika Lindinger; Ali Baghai; Ludwig 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 81 KB