(Q33357221)

26 July 2017

Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome (English)

1 reference

Xavier Estivill i Pallejà

26 July 2017

Wiskott-Aldrich syndrome

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author

4

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26 July 2017

Nuria Andreu

1

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author name string

Carmen Carreras

2

1 reference

26 July 2017

Félix Prieto

3

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26 July 2017

Victor Volpini

5

1 reference

26 July 2017

Cristina Fillat

6

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26 July 2017

18 October 2003

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Journal of Human Genetics

26 July 2017

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26 July 2017

48

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26 July 2017

11

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26 July 2017

590-593

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https://scigraph.springernature.com/pub.10.1007/s10038-003-0083-6

26 July 2017

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cites work

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

1 reference

12 December 2020

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

12 December 2020

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

1 reference

12 December 2020

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

12 December 2020

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

12 December 2020

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

1 reference

12 December 2020

Pre-mRNA splicing and human disease

1 reference

12 December 2020

Splicing of messenger RNA precursors

1 reference

12 December 2020

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene

1 reference

12 December 2020

The Wiskott-Aldrich syndrome protein: forging the link between actin and cell activation

1 reference

12 December 2020

Defects in RNA splicing and the consequence of shortened translational reading frames

1 reference

12 December 2020

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

1 reference

12 December 2020

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10038-003-0083-6

Identifiers

DOI

1 reference

26 July 2017

1 reference