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Article

Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene.

Hamostaseologie - 1 Jan 2015

Stächele J, Bakchoul T, Najm J, Felbor U, Knöfler R

Abstract excerpt

Congenital thrombocytopenia in childhood and adolescence requires an extensive diagnostic workup to find the underlying reason. We report on a 13-year-old female patient who was incidentally found to have moderate thrombocytopenia which was also diagnosed in her father and brother. Within the microscopic evaluation of a peripheral blood smear macrothrombocytes were found. Immunofluorescence microscopy of the...

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Share to Adolescent
Share to Blood Platelets
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 26540125

Genes

TUBB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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