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Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

✍ Scribed by Shrimal, S.; Ng, B. G.; Losfeld, M.-E.; Gilmore, R.; Freeze, H. H.


Book ID
125434400
Publisher
Oxford University Press
Year
2013
Tongue
English
Weight
537 KB
Volume
22
Category
Article
ISSN
0964-6906

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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 [