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Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects
Severe congenital neutropenia type 4 (SCN-4) is an autosomal recessive condition in which mutations in the G6PC3 gene encoding for the catalytic 3 subunit of glucose-6-phosphatase-β result in neutropenia, neutrophil dysfunction, and other syndromic features. We report a child with SCN-4 caused by co...
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| Pubblicato in: | Blood Adv |
|---|---|
| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society of Hematology
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7724913/ https://ncbi.nlm.nih.gov/pubmed/33259599 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020002225 |
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