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...
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Main Authors: | Romane Thouenon (Author), Nidia Moreno-Corona (Author), Lucie Poggi (Author), Anne Durandy (Author), Sven Kracker (Author) |
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Format: | Book |
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Frontiers Media S.A.,
2021-06-01T00:00:00Z.
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