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Article

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2016

Kitamura K, Okuno Y, Yoshida K, Sanada M, Shiraishi Y, Muramatsu H, Kobayashi R, Furukawa K, Miyano S, Kojima S, Ogawa S, Kunishima S

Abstract excerpt

UNLABELLED: Essentials Two groups recently reported GFI1B as a novel causative gene for congenital macrothrombocytopenia. We performed functional analysis of a novel GFI1B mutation and previous mutations. An immunofluorescence analysis of the platelet CD34 expression can be useful as a screening test. Mutant-transduced megakaryocytes produced enlarged proplatelet tips which were reduced in number. SUMMARY:...

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Antigens, CD34
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Blood Platelets
Erythrocytes
Megakaryocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thrombocytopenia

Thrombospondin 1

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PMID: 27122003
DOI: 10.1111/jth.13350

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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