Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

Item
http://www.wikidata.org/entity/Q33496111
Motility determinants in WASP family proteins.X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophagesThe Wiskott-Aldrich syndromeEVH1/WH1 domains of VASP and WASP proteins belong to a large family including Ran-binding domains of the RanBP1 familyClinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics?Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.WASp verprolin homology, cofilin homology, and acidic region domain-mediated actin polymerization is required for T cell development.The Wiskott-Aldrich syndrome protein: forging the link between actin and cell activation.Triads in dermatologyTargeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.Verprolin function in endocytosis and actin organization. Roles of the Las17p (yeast WASP)-binding domain and a novel C-terminal actin-binding domain.Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.N-WASP regulates the epithelial junctional actin cytoskeleton through a non-canonical post-nucleation pathway.
P2860

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

Item
http://www.wikidata.org/entity/Q33496111
description
1996 nî lūn-bûn
@nan
1996 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Wiskott-Aldrich syndrome: no s ...... part of the WASP gene product.
@ast
Wiskott-Aldrich syndrome: no s ...... part of the WASP gene product.
@en
type
label
Wiskott-Aldrich syndrome: no s ...... part of the WASP gene product.
@ast
Wiskott-Aldrich syndrome: no s ...... part of the WASP gene product.
@en
prefLabel
Wiskott-Aldrich syndrome: no s ...... part of the WASP gene product.
@ast
Wiskott-Aldrich syndrome: no s ...... part of the WASP gene product.
@en
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P921
P356
P1433
P1476
Wiskott-Aldrich syndrome: no s ...... part of the WASP gene product.
@en
P2093
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P921