Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0501_73.pdf
Reference14 articles.
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3. Lübke, T., Marquardt, T., von Figura, K. & Körner, C. A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the Golgi. J. Biol. Chem. 274, 25986–25989 (1999).
4. Marquardt, T. et al. A new patient with leukocyte adhesion deficiency (LAD) II syndrome. J. Pediatr. 134, 681–688 (1999).
5. Frydman, M. et al. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophile mobility, and Bombay phenotype. Am. J. Med. Genet. 44, 297–302 (1992).
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