Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
about
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects
P2860
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
@zh-my
2017年学术文章
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2017年學術文章
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2017年學術文章
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2017年學術文章
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name
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
@en
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
@nl
type
label
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
@en
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
@nl
prefLabel
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
@en
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
@nl
P2860
P1476
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
@en
P2093
Jean-Laurent Casanova
P2860
P2888
P304
P356
10.1007/S10875-017-0400-Z
P577
2017-06-09T00:00:00Z