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A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations

The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase β or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also called severe congenital neutropenia type 4, MIM 612541). To date, at least 57 pa...

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Detalhes bibliográficos
Main Authors: Banka, Siddharth, Newman, William G
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3718741/
https://ncbi.nlm.nih.gov/pubmed/23758768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-84
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