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Article

Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.

European journal of haematology - 1 Aug 2010

Fermo Elisa, Bianchi Paola, Vercellati Cristina, Rees David C, Marcello Anna P, Barcellini Wilma, Zanella Alberto

Abstract excerpt

We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. The sequence of complete TPI gene showed the presence of two previously undescribed mutations: c.722 T>C (Phe240Se...

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Identifiers

PMID: 20374271
DOI: 10.1111/j.1600-0609.2010.01451.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20374271-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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