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Article

Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR.

British journal of haematology - 1 Mar 1996

Holmes Z R, Bertina R M, Reitsma P H

Abstract excerpt

A long-PCR-based technique was developed to investigate a possible deletion in the protein S gene, PROS1, in a family with type I protein S (PS) deficiency (pedigree PS62). Long-PCR across introns produced an unexpected 2kb PCR product between exon VII and XII not seen in control individuals, in addition to the expected 2.5 kb exon VII-VIII product. This result suggested that a deletion had occurred between exons...

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Source

Identifiers

PMID: 8616098
DOI: 10.1046/j.1365-2141.1996.403943.x

Genes

PROS1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR.PMID 8616098Read ↗

Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with 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 ↗

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 ↗

Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.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 ↗

A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.Semantic proximity Read ↗

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

Identification of novel PROS1 variants through systematic analysis of patients with suspected hereditary protein S deficiency.Semantic proximity Read ↗

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.Semantic proximity Read ↗

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

A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort.Semantic proximity Read ↗

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

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