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Functional Analysis of Novel Mutations in a Congenital Disorder of Glycosylation Ia Patient with Mixed Asian Ancestry

✍ Scribed by Vibeke Westphal; Gregory M. Enns; Marjorie F. McCracken; Hudson H. Freeze


Book ID
115639850
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
130 KB
Volume
73
Category
Article
ISSN
1096-7192

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Functional analysis of three splicing mu
✍ 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