(Q43712131)

English

A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia

scientific article published on 24 December 2012

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scholarly article

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Europe PubMed Central

PubMed publication ID

26 November 2017

A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

thrombocytopenia

1 reference

based on heuristic

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author name string

Belinda K Singleton

1

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

David J Roxby

2

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

John W Stirling

3

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Frances A Spring

4

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Carolyn Wilson

5

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Joyce Poole

6

1 reference

Europe PubMed Central

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26 November 2017

David J Anstee

7

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Europe PubMed Central

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26 November 2017

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publication date

24 December 2012

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Europe PubMed Central

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26 November 2017

British Journal of Haematology

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Europe PubMed Central

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26 November 2017

161

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Europe PubMed Central

PubMed publication ID

26 November 2017

1

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Europe PubMed Central

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26 November 2017

139-142

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Europe PubMed Central

PubMed publication ID

26 November 2017

Human phenotypes associated with GATA-1 mutations

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12184

21 January 2018

N- and C-terminal transactivation domains of GATA1 protein coordinate hematopoietic program

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12184

21 January 2018

Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype.

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12184

21 January 2018

Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12184

21 January 2018

A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12184

21 January 2018

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12184

21 January 2018

Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia I ultrastructure

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12184

21 January 2018

Identifiers

10.1111/BJH.12184

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

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