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[Phenotype and genetic mutation analysis of an inherited protein C deficiency pedigree].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases - 12 Dec 2021

Ma X Q, Li N, Zhang R F

Abstract excerpt

Objective: A phenotypic and gene mutation study was carried out to investigate the molecular mechanism of inherited protein C deficiency in a family with the disorder. Methods: The proband was a 21-year-old male who was admitted to hospital due to swelling of the left lower limb for 3 months and hemoptysis with chest tightness for more than 1 week. The clinical diagnosis was pulmonary embolism and deep vein...

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Identifiers

PMID: 34915621
DOI: 10.3760/cma.j.cn112147-20210331-00219

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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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