Literature DB >> 23278136

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

Belinda K Singleton, David J Roxby, John W Stirling, Frances A Spring, Carolyn Wilson, Joyce Poole, David J Anstee.   

Abstract

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Year:  2012        PMID： 23278136     DOI： 10.1111/bjh.12184

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  5 in total

1.  Analysis of disease-causing GATA1 mutations in murine gene complementation systems.

Authors:  Amy E Campbell; Lorna Wilkinson-White; Joel P Mackay; Jacqueline M Matthews; Gerd A Blobel
Journal:  Blood       Date:  2013-05-23       Impact factor: 22.113

Review 2.  Erythro-megakaryocytic transcription factors associated with hereditary anemia.

Authors:  John D Crispino; Mitchell J Weiss
Journal:  Blood       Date:  2014-03-20       Impact factor: 22.113

3.  Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.

Authors:  Jesse Eernstman; Barbera Veldhuisen; Peter Ligthart; Marieke von Lindern; C Ellen van der Schoot; Emile van den Akker
Journal:  Sci Rep       Date:  2021-09-17       Impact factor: 4.996

4.  Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant.

Authors:  Kerstin Jurk; Anke Adenaeuer; Stefanie Sollfrank; Kathrin Groß; Friederike Häuser; Andreas Czwalinna; Josef Erkel; Nele Fritsch; Dana Marandiuc; Martin Schaller; Karl J Lackner; Heidi Rossmann; Frauke Bergmann
Journal:  Cells       Date:  2022-09-29       Impact factor: 7.666

5.  A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.

Authors:  Ben Johnson; Rachel Doak; David Allsup; Emma Astwood; Gillian Evans; Charlotte Grimley; Beki James; Bethan Myers; Simone Stokley; Jecko Thachil; Jonathan Wilde; Mike Williams; Mike Makris; Gillian C Lowe; Yvonne Wallis; Martina E Daly; Neil V Morgan
Journal:  Res Pract Thromb Haemost       Date:  2018-10-08
  5 in total

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