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Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients.

Thrombosis research - 1 Jan 2008

Kim Hee-Jin, Kim Duk-Kyung, Koh Kwang-Cheol, Kim Ji-Youn, Kim Sun-Hee

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 18573519
DOI: 10.1016/j.thromres.2008.04.014

Genes

PROC

Provenance

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients.PMID 18573519Read ↗

Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.Semantic proximity Read ↗

Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes.Semantic proximity Read ↗

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.Semantic proximity Read ↗

[Analysis of PROC gene variant in a Chinese pedigree affected with hereditary protein C deficiency].Semantic proximity Read ↗

[Analysis of the molecular pathogenesis of hereditary protein C deficiency due to a p.Gly86Asp variant of the PROC gene].Semantic proximity Read ↗

Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families.Semantic proximity Read ↗

[Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene].Semantic proximity Read ↗

[Analysis of phenotypes and genetic mutations in two pedigrees affected with hereditary protein C deficiency].Semantic proximity Read ↗

[Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency due to heterozygous deletional mutation of PROC gene].Semantic proximity Read ↗

[Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency].Semantic proximity Read ↗

[Analysis of an hereditary protein C deficiency pedigree with compound heterozygous gene mutations].Semantic proximity Read ↗

Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene.Semantic proximity Read ↗

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