Mutations in PMM2 that cause congenital
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G. Matthijs; E. Schollen; C. Bjursell; A. Erlandson; H. Freeze; F. Imtiaz; S. Kj
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Article
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2000
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John Wiley and Sons
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English
β 345 KB
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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 [