✦ LIBER ✦

Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations in PMM2

✍ Scribed by D. Quelhas; R. Quental; L. Vilarinho; A. Amorim; L. Azevedo

Book ID: 111111335
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 480 KB
Volume: 71
Category: Article
ISSN: 0003-4800
DOI: 10.1111/j.1469-1809.2006.00334.x

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 [

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

Functional analysis of three splicing mu

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

✍ Ana I. Vega; Celia Pérez-Cerdá; Lourdes R. Desviat; Gert Matthijs; Magdalena Uga 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB

The congenital disorders of glycosylation (CDG) are a group of diseases caused by genetic defects affecting N-glycosylation. The most prevalent form of CDG-type Ia-is caused by defects in the PMM2 gene. This work reports the study of two new nucleotide changes (c.256-1G>C and c.640-9T>G) identified

Congenital disorder of glycosylation typ

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: Two novel PMM2 mutations

✍ D. Coman; S. Klingberg; D. Morris; J. McGill; H. Mercer 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 76 KB

Novel nonsense mutation (R194X) in the P

Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia

✍ Hiroaki Ono; Nobuo Sakura; Katsuko Yamashita; Isao Yuasa; Kousaku Ohno 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 123 KB

Skeletal Dysplasia and Myelopathy in Con

Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA

✍ Steven M. Schade van Westrum; Paul J. Nederkoorn; P. Richard Schuurman; Tom Vuls 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 139 KB