A syndrome with congenital neutropenia and mutations in G6PC3

Authors :: Boztug, Kaan
Appaswamy, Giridharan
Ashikov, Angel
Schaffer, 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
Bellanne-Chantelot, Christine
Rezaei, Nima
Monkemoller, Kirsten
Irani-Hakimeh, Noha
Bakker, Hans
Gerardy-Schahn, Rita
Zeidler, Cornelia
Grimbacher, Bodo
Welte, Karl
Klein, Christoph
Source :: The New England Journal of Medicine. Jan 1, 2009, Vol. 360 Issue 1, p32, 12 p.
Publication Year :: 2009
Abstract: A study was conducted to investigate the main features and causes of severe congenital neutropenia. Results indicated that defective function of glucose-6-phosphate, catalytic subunit 3, due to mutations in its encoding gene G6PC3, is indicative of the syndrome.

Subjects :: Neutropenia -- Diagnosis
Neutropenia -- Causes of
Neutropenia -- Risk factors
Neutropenia -- Genetic aspects
Gene mutations -- Research
Gene mutations -- Physiological aspects

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