Alku mutation publications
Search PubMed latest citations for G6PC3 mutations
2011
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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S
Eur J Hum Genet 2011(1): 18-22
[PubMed abstract].
2010
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Digenic mutations in severe congenital neutropenia.
Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K
Haematologica 2010(7): 1207-10
[PubMed abstract].
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Mutations in the G6PC3 gene cause Dursun syndrome.
Banka S, Newman WG, Ozgül RK, Dursun A
Am J Med Genet A 2010(10): 2609-11
[PubMed abstract].
2009
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A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia.
Aróstegui JI, de Toledo JS, Pascal M, García C, Yagüe J, Díaz de Heredia C
Blood 2009(8): 1718-9
[PubMed abstract].
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Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC
Br J Haematol 2009(4): 535-42
[PubMed abstract].
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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
N Engl J Med 2009(1): 32-43
[PubMed abstract].
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