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Article

Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency.

International journal of hematology - 1 Nov 2009

Yamanouchi Jun, Hato Takaaki, Tamura Tatsushiro, Fujiwara Hiroshi, Yakushijin Yoshihiro, Yasukawa Masaki

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

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Identifiers

PMID: 19826897
DOI: 10.1007/s12185-009-0430-2

Genes

PROS1

Provenance

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Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency.PMID 19826897Read ↗

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Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification.Semantic proximity Read ↗

Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA).Semantic proximity Read ↗

Protein S deficiency: a database of mutations--summary of the first update.Semantic proximity Read ↗

Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.Semantic proximity Read ↗

Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency.Semantic proximity Read ↗

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Clinical consequences of compound heterozygosity for protein S mutation Heerlen and p.Cys252Gly protein S mutation.Semantic proximity Read ↗

Protein S Erlangen: a novel PROS1 gene mutation associated with quantitative protein S deficiency.Semantic proximity Read ↗

Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency.Semantic proximity Read ↗

Genotype and laboratory and clinical phenotypes of protein s deficiency.Semantic proximity Read ↗

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