(Q43486316)

23 November 2017

title

Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome (English)

1 reference

Xavier Estivill i Pallejà

23 November 2017

author

5

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23 November 2017

Fillat C

1

1 reference

23 November 2017

Español T

2

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23 November 2017

Oset M

3

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23 November 2017

Ferrando M

4

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23 November 2017

Volpini V

6

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23 November 2017

language of work or name

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1 April 2001

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American Journal of Medical Genetics Part A

23 November 2017

published in

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23 November 2017

volume

100

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23 November 2017

issue

2

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23 November 2017

page(s)

116-121

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Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

23 November 2017

cites work

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WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

21 January 2018

1 reference

Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.

21 January 2018

1 reference

Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome

21 January 2018

1 reference

Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus

21 January 2018

1 reference

Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42

21 January 2018

1 reference

Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene

21 January 2018

1 reference

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome

21 January 2018

1 reference

The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).

21 January 2018

1 reference

WIP, a protein associated with wiskott-aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells

21 January 2018

1 reference

Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains

21 January 2018

1 reference

Wiskott-Aldrich syndrome in a family with Fanconi anemia

21 January 2018

1 reference

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

21 January 2018

1 reference

The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization

21 January 2018

1 reference

A multiinstitutional survey of the Wiskott-Aldrich syndrome.

21 January 2018

1 reference

Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization

21 January 2018

1 reference

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

21 January 2018

1 reference

WASPbase: a database of WAS- and XLT-causing mutations

21 January 2018

1 reference

Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome

21 January 2018

1 reference

Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22–Xp11.3

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1228

1 reference

release_y2ll6h76hbdfldtxer3efyrnd4

23 November 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/y2ll6h76hbdfldtxer3efyrnd4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference