A novelGATA1mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia-Reference-Cited by-同舟云学术

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A novelGATA1mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia

Published:2012-12-24 Issue:1 Volume:161 Page:139-142
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Singleton Belinda K.¹,Roxby David J.²,Stirling John W.³,Spring Frances A.¹,Wilson Carolyn⁴,Poole Joyce⁵,Anstee David J.

Affiliation:

1. Bristol Institute for Transfusion Sciences; National Health Service Blood and Transplant (NHSBT); Bristol; UK

2. SA Pathology Transfusion Service; Flinders Medical Centre; Bedford Park; SA; Australia

3. The Centre for Ultrastructural Pathology; SA Pathology; Adelaide; SA; Australia

4. Australian Red Cross Blood Service; Adelaide; SA; Australia

5. International Blood Group Reference Laboratory; National Health Service Blood and Transplant (NHSBT); Bristol; UK

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.12184/fullpdf

Reference10 articles.

1. Human phenotypes associated with GATA-1 mutations;Ciovacco;Gene,2008

2. N- and C-terminal transactivation domains of GATA1 protein coordinate hematopoietic program;Kaneko;Journal of Biological Chemistry,2012

3. Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype;Karamatic Crew;Transfusion,2007

4. An Lu(a-b-) phenotype caused by an X-linked recessive gene;Norman;Vox Sanguinis,1986

5. Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1;Pevny;Nature,1991

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