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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in G6PC3. To date there are only three reports in the literature describing patients with SCN4 with mutations in the G6PC3 gene. We report four i...

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Detalhes bibliográficos
Main Authors: Banka, Siddharth, Chervinsky, Elena, Newman, William G, Crow, Yanick J, Yeganeh, Shay, Yacobovich, Joanne, Donnai, Dian, Shalev, Stavit
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3039503/
https://ncbi.nlm.nih.gov/pubmed/20717171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.136
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