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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Dades bibliogràfiques
Publicat a:Front Immunol
Autors principals: Mistry, Anoop, Scambler, Thomas, Parry, David, Wood, Mark, Barcenas-Morales, Gabriela, Carter, Clive, Doffinger, Rainer, Savic, Sinisa
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2017
Matèries:
Immunology
Accés en línia: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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