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New Therapies Targeting the Genetic Mutations Responsible for Different Types of Melanoma

✍ Scribed by R. Botella-Estrada; O. Sanmartín Jiménez


Book ID
119628221
Publisher
Elsevier Science
Year
2010
Tongue
Spanish
Weight
529 KB
Volume
101
Category
Article
ISSN
0001-7310

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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