Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications

G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital abnormalities. However, here we describe two boys of Pakistani origin who were found to have G6PC3 deficiency due to c.130 C>T mutation, but who have clinical phen...

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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: Mistry, Anoop, Scambler, Thomas, Parry, David, Wood, Mark, Barcenas-Morales, Gabriela, Carter, Clive, Doffinger, Rainer, Savic, Sinisa
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Immunology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5681747/
https://ncbi.nlm.nih.gov/pubmed/29163546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2017.01485
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