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Article

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

Thrombosis research - 1 Mar 2009

Yoo Jong-Ha, Kim Hee-Jin, Maeng Ho-Young, Kim Young-Ah, Sun Young-Kyu, Song Jae-Woo, Choi Jong-Rak, Kim Sun-Hee, Lee Kyung-A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19168201
DOI: 10.1016/j.thromres.2008.12.003

Genes

PROS1

Provenance

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Related research

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Research trail→

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Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA).PMID 19168201Read ↗

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 ↗

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

Genotype and laboratory and clinical phenotypes of 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 ↗

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

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

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

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

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

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

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