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A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C. Boztug K, et al. N Engl J Med. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051. N Engl J Med. 2009. PMID: 19118303 Free PMC article.
A CMP-sialic acid transporter cloned from Arabidopsis thaliana.
Bakker H, Routier F, Ashikov A, Neumann D, Bosch D, Gerardy-Schahn R. Bakker H, et al. Carbohydr Res. 2008 Aug 11;343(12):2148-52. doi: 10.1016/j.carres.2008.01.010. Epub 2008 Jan 17. Carbohydr Res. 2008. PMID: 18258224
200 results