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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Detalles Bibliográficos
Autores principales: Mistry, Anoop, Scambler, Thomas, Parry, David, Wood, Mark, Barcenas-Morales, Gabriela, Carter, Clive, Doffinger, Rainer, Savic, Sinisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681747/
https://www.ncbi.nlm.nih.gov/pubmed/29163546
http://dx.doi.org/10.3389/fimmu.2017.01485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681747/
https://www.ncbi.nlm.nih.gov/pubmed/29163546
http://dx.doi.org/10.3389/fimmu.2017.01485

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