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Article

Molecular defects associated with antithrombin deficiency and dilated cardiomyopathy in a Japanese patient.

Internal medicine (Tokyo, Japan) - 1 Jan 2008

Fujimori Yuta, Okimatsu Hidemi, Kashiwagi Takahiro, Sanda Naomi, Okumura Kaoru, Takagi Akira, Nagata Kohzo, Murate Takashi, Uchida Aya, Node Koichi, Saito Hidehiko, Kojima Tetsuhito

Abstract excerpt

OBJECTIVE: The molecular basis for the antithrombin (AT) deficiency and dilated cardiomyopathy (DCM) combined in a Japanese patient was investigated. METHODS: We analyzed candidate genes -SERPINC1 for AT deficiency, and TNNT2 and LMNA for DCM. In addition, we examined the characteristics of recombinant mutant AT and evaluated the LMNA mutation associated with DCM by molecular modeling. RESULTS: Genome sequencing...

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Source

Identifiers

PMID: 18480576
DOI: 10.2169/internalmedicine.47.0669

Genes

LMNA
SERPINC1
TNNT2

Variants

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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