(Q33496614)

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

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18 October 2019

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8757563%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Wiskott-Aldrich syndrome

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thrombocytopenia

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based on heuristic

inferred from title

Geneviève de Saint Basile

1

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18 October 2019

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R D Lagelouse

2

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18 October 2019

N Lambert

3

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18 October 2019

K Schwarz

4

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18 October 2019

B Le Mareck

5

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18 October 2019

S Odent

6

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18 October 2019

N Schlegel

7

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18 October 2019

A Fischer

8

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18 October 2019

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publication date

1 July 1996

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18 October 2019

The Journal of Pediatrics

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18 October 2019

129

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18 October 2019

1

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18 October 2019

56-62

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18 October 2019

X-linked thrombocytopenic purpura. I. Clinical and genetic studies of a kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

A newly defined X-linked trait in man with demonstration of the Lyon effect in carrier females

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970190-7

7 January 2021

Identifiers

10.1016/S0022-3476(96)70190-7

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8757563%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

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18 October 2019

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