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Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

✍ Scribed by Els Schollen; Liesbeth Keldermans; François Foulquier; Paz Briones; Amparo Chabas; Félix Sánchez-Valverde; Maciej Adamowicz; Ewa Pronicka; Ron Wevers; Gert Matthijs


Book ID
116987962
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
368 KB
Volume
90
Category
Article
ISSN
1096-7192

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Mutations in PMM2 that cause congenital
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The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [