Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Mutations in the adaptor-bindi ...... ted PI3K-δ Syndrome 1 (APDS1).

@en

Mutations in the adaptor-bindi ...... se Activated PI3K-δ Syndrome 1

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type

Item

label

Mutations in the adaptor-bindi ...... ted PI3K-δ Syndrome 1 (APDS1).

@en

Mutations in the adaptor-bindi ...... se Activated PI3K-δ Syndrome 1

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prefLabel

Mutations in the adaptor-bindi ...... ted PI3K-δ Syndrome 1 (APDS1).

@en

Mutations in the adaptor-bindi ...... se Activated PI3K-δ Syndrome 1

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P1476

Mutations in the adaptor-bindi ...... ted PI3K-δ Syndrome 1 (APDS1).

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P2093

Alain Fischer

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Benoit Dumont

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Bénédicte Neven

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Delphine Turpin

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Etienne Merlin

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Jean-Louis Stephan

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Jean-Marc Plaza

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Jérémie Rosain

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Loïc Chentout

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Lucie Heurtier

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P2860

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

The Rational Design of Selective Benzoxazepin Inhibitors of the α-Isoform of Phosphoinositide 3-Kinase Culminating in the Identification of (S)-2-((2-(1-Isopropyl-1H-1,2,4-triazol-5-yl)-5,6-dihydrobenzo[f]imidazo[1,2-d][1,4]oxazepin-9-yl)oxy)propana

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome.

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

P304

e278-e281

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scholarly article

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10.3324/HAEMATOL.2017.167601

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P433

http://www.w3.org/2001/XMLSchema#string

P478

102

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P50

Marina Cavazzana-Calvo

P577

2017-04-20T00:00:00Z

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P698

28428270

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P932

5566055

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