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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

✍ Scribed by G. Matthijs; E. Schollen; C. Bjursell; A. Erlandson; H. Freeze; F. Imtiaz; S. Kjaergaard; T. Martinsson; M. Schwartz; N. Seta; S. Vuillaumier-Barrot; V. Westphal; B. Winchester

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 345 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200011)16:5<386::aid-humu2>3.0.co;2-y

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✦ Synopsis

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

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