Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.
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New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicalsRevertant mosaicism in skin: natural gene therapyMultiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome.Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.Wiskott-Aldrich syndrome protein is required for homeostasis and function of invariant NKT cells.Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.Gene transfer into hematopoietic stem cells as treatment for primary immunodeficiency diseases.Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.Gene Correction of iPSCs from a Wiskott-Aldrich Syndrome Patient Normalizes the Lymphoid Developmental and Functional Defects.Signal Integration during T Lymphocyte Activation and Function: Lessons from the Wiskott-Aldrich Syndrome.A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cellsVaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome.A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.
P2860
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P2860
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.
description
2003 nî lūn-bûn
@nan
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Second-site mutation in the Wi ...... mosaicism in two WAS siblings.
@ast
Second-site mutation in the Wi ...... mosaicism in two WAS siblings.
@en
Second-site mutation in the Wiskott-Aldrich syndrome
@nl
type
label
Second-site mutation in the Wi ...... mosaicism in two WAS siblings.
@ast
Second-site mutation in the Wi ...... mosaicism in two WAS siblings.
@en
Second-site mutation in the Wiskott-Aldrich syndrome
@nl
prefLabel
Second-site mutation in the Wi ...... mosaicism in two WAS siblings.
@ast
Second-site mutation in the Wi ...... mosaicism in two WAS siblings.
@en
Second-site mutation in the Wiskott-Aldrich syndrome
@nl
P2093
P2860
P356
P1476
Second-site mutation in the Wi ...... mosaicism in two WAS siblings.
@en
P2093
Akihiro Konno
David L Nelson
Elizabeth K Garabedian
Fabio Candotti
Martha Kirby
Shepherd H Schurman
Stacie M Anderson
Taizo Wada
P2860
P304
P356
10.1172/JCI15485
P407
P577
2003-05-01T00:00:00Z