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Article

One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.

American journal of hematology - 1 Oct 2006

Mizukami Kazuhiro, Nakabayashi Toru, Naitoh Sumiyoshi, Takeda Mika, Tarumi Takashi, Mizoguchi Itaru, Ieko Masahiro, Koike Takao

Abstract excerpt

We investigated the molecular basis of type I protein S (PS) deficiency in two unrelated Japanese families, in which both probands developed pulmonary embolism associated with deep vein thrombosis. Nucleotide sequencing of amplified DNA revealed distinct point mutations in the PROS1 gene of the probands, which were designated protein S Sapporo 1 and protein S Sapporo 2. Additional mutations in the PROS1 gene were...

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Source

Identifiers

PMID: 16868938
DOI: 10.1002/ajh.20689

Genes

PROS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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