PREVALENCE OF MUTATIONS IN ELANE, GFI1, HAX1, SBDS, WAS, AND G6PC3 IN PATIENTS WITH SEVERE CONGENITAL NEUTROPENIA

Severe congenital neutropenia (SCN) is a genetically heterogeneous syndrome associated with mutations of ELANE (ELA2), HAX1, GFI1, WAS, CSF3R or G6PC3. We investigated the prevalence of mutations of ELANE in a cohort of 162 SCN patients for whom blood or bone marrow samples were submitted to the Nor...

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Détails bibliographiques
Auteurs principaux: Xia, Jun, Bolyard, Audrey Anna, Rodger, Elin, Stein, Steve, Aprikyan, Andrew A., Dale, David C., Link, Daniel C.
Format: Artigo
Langue:Inglês
Publié: 2009
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2783282/
https://ncbi.nlm.nih.gov/pubmed/19775295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2141.2009.07888.x
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