𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients

✍ Scribed by Hudson H. Freeze

Book ID
116270736
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
368 KB
Volume
1792
Category
Article
ISSN
0925-4439

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

A deletion-insertion mutation in the pho
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia
✍ Tayebi, Nahid ;Andrews, David Q. ;Park, Joseph K. ;Orvisky, Eduard ;McReynolds, πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 221 KB πŸ‘ 2 views

## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders with multisystemic involvement characterized by abnormalities in the synthesis of N‐linked oligosaccharides. The most common form, CDG‐Ia, resulting from mutations in the gene encoding the enzyme phosphomanno

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 PΓ©rez-CerdΓ‘; Lourdes R. Desviat; Gert Matthijs; Magdalena Uga πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 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