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Article

Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele.

Blood - 15 Apr 1997

Espinosa-Parrilla Y, Morell M, Souto J C, Borrell M, Heine-Suñer D, Tirado I, Volpini V, Estivill X, Sala N

Abstract excerpt

To elucidate the molecular basis of hereditary protein S (PS) deficiency and, in particular, type III or free PS deficiency, the allelic distribution and segregation patterns of the PS gene (PROS1) polymorphisms P626A/G and S460P (PS Heerlen) have been analyzed in a group of 45 proposita suffering from type I or type III PS deficiency. No differences between patients and controls were found in the frequency of...

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PMID: 9108398

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PROS1

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Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele.PMID 9108398Read ↗

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.Semantic proximity Read ↗

The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population.Semantic proximity Read ↗

Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1.Semantic proximity Read ↗

Molecular basis of protein S deficiency.Semantic proximity Read ↗

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

The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency.Semantic proximity Read ↗

PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations.Semantic proximity Read ↗

Five new mutations in the PROS1 gene associated with protein S deficiency in Polish patients screened for thrombophilia: efficacy of direct oral anticoagulant treatment.Semantic proximity Read ↗

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

Genetic and phenotypic variability between families with hereditary protein S deficiency.Semantic proximity Read ↗

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

Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency.Semantic proximity Read ↗

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