Functional analysis of three splicing mu
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Ana I. Vega; Celia Pérez-Cerdá; Lourdes R. Desviat; Gert Matthijs; Magdalena Uga
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Article
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2009
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John Wiley and Sons
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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