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Article

SERPINC1 gene mutations in antithrombin deficiency.

British journal of haematology - 1 Jul 2017

Mulder René, Croles F Nanne, Mulder André B, Huntington James A, Meijer Karina, Lukens Michaël V

Abstract excerpt

Existing evidence suggests that in most cases antithrombin deficiency can be explained by mutations in its gene, SERPINC1. We investigated the molecular background of antithrombin deficiency in a single centre family cohort study. We included a total of 21 families comprising 15 original probands and sixty-six relatives, 6 of who were surrogate probands for the genetic analysis. Antithrombin activity and antigen...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28317092
DOI: 10.1111/bjh.14658

Genes

SERPINC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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