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Activated PI3Kinase Delta Syndrome—A Multifaceted Disease
Autosomal dominant gain-of-function mutations in the PIK3CD gene encoding the catalytic subunit p110δ of phosphoinositide 3-kinase-δ (PI3K-δ) or autosomal dominant loss-of-function mutations in the PIK3R1 gene encoding the p85α, p55α and p50α regulatory subunits cause Activated PI3-kinase-δ syndrome...
Shranjeno v:
| izdano v: | Front Pediatr |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Frontiers Media S.A.
2021
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8267809/ https://ncbi.nlm.nih.gov/pubmed/34249806 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.652405 |
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