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Article

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

British journal of haematology - 1 Apr 2013

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

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Share to Blood Platelets
Share to Cell Adhesion Molecules
Share to GATA1 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Microscopy, Electron

Share to Mutation, Missense

Share to Sequence Alignment

Share to Thrombocytopenia

Source

Identifiers

PMID: 23278136
DOI: 10.1111/bjh.12184

Genes

GATA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.PMID 23278136Read ↗

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Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivationSemantic proximity Read ↗

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