A novel syndrome with congenital neutropenia caused by mutations in G6PC3

BACKGROUND: Severe congenital neutropenia (SCN) is characterized by early onset of severe bacterial infections due to a paucity of mature neutrophils. There is also an increased risk of leukemia. The genetic causes of SCN are unknown in many patients. METHODS: Genome-wide genotyping and linkage anal...

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Main Authors: Boztug, Kaan, Appaswamy, Giridharan, Ashikov, Angel, Schäffer, Alejandro A., Salzer, Ulrich, Diestelhorst, Jana, Germeshausen, Manuela, Brandes, Gudrun, Lee-Gossler, Jacqueline, Noyan, Fatih, Gatzke, Anna-Katherina, Minkov, Milen, Greil, Johann, Kratz, Christian, Petropoulou, Theoni, Pellier, Isabelle, Bellanné-Chantelot, Christine, Rezaei, Nima, Mönkemöller, Kirsten, Irani-Hakimeh, Noha, Bakker, Hans, Gerardy-Schahn, Rita, Zeidler, Cornelia, Grimbacher, Bodo, Welte, Karl, Klein, Christoph
Format: Artigo
Language:Inglês
Published: 2009
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2778311/
https://ncbi.nlm.nih.gov/pubmed/19118303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0805051
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