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

scientific article published on 23 May 2009

Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S00439-009-0687-9
P932PMC publication ID3774415
P698PubMed publication ID19466456
P5875ResearchGate publication ID26238019

P50authorPieter ReitsmaQ77086866
Delphine BorgelQ43228901
Sophie GandrilleQ57948386
P2093author name stringC A Spek
A A Garcia
M Alhenc-Gelas
M C H de Visser
Maria C Pintao
P2860cites workProtein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiencyQ78125755
Characterization of the human protein S gene promoter: a possible role of transcription factors Sp1 and HNF3 in liverQ79339902
Re-evaluation of the role of the protein S-C4b binding protein complex in activated protein C-catalyzed factor Va-inactivationQ80412894
Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplificationQ81303498
A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiencyQ81445941
Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA)Q83235749
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplificationQ24530153
High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding proteinQ28610986
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussionQ29616531
Organization of the human protein S genesQ33868048
Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: duplication and silencing during primate evolutionQ33868055
Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.Q34124313
Genetic susceptibility to venous thrombosisQ34223106
Phosphodiesterase-4 inhibition attenuates pulmonary inflammation in neonatal lung injuryQ34727917
Diagnosing protein S deficiency: analytical considerationsQ35111233
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of diseaseQ35649549
Protein S deficiency: a clinical perspectiveQ37163507
The Human Gene Mutation Database: 2008 updateQ41809836
The constitutive expression of anticoagulant protein S is regulated through multiple binding sites for Sp1 and Sp3 transcription factors in the protein S gene promoterQ42494672
A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient familiesQ43720749
Rapid detection of VHL exon deletions using real-time quantitative PCR.Q49125755
First case of protein S deficiency due to a translocation t(3;21)(q11.2;q22).Q50351426
Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiencyQ50771822
Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes.Q50950564
Molecular basis of protein S deficiency.Q55044585
The regulation of natural anticoagulant pathwaysQ55060438
Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1Q61634596
Protein S deficiency: a database of mutations--summary of the first updateQ61835572
Molecular basis for protein S hereditary deficiency: Genetic defects observed in 118 patients with type I and type IIa deficiencies1Q61835615
Five novel mutations of the protein S active gene (PROS 1) in 8 Norman familiesQ61835629
Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active geneQ61835634
Partial protein S gene deletion in a family with hereditary thrombophiliaQ69293946
Two genes homologous with human protein S cDNA are located on chromosome 3Q69915860
An abnormal plasma distribution of protein S occurs in functional protein S deficiencyQ69985232
Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigreesQ71543593
Inherited thrombophilia: Part 1Q71848947
Blood coagulationQ73814629
A study of Protein S antigen levels in 3788 healthy volunteers: influence of age, sex and hormone use, and estimate for prevalence of deficiency stateQ73942310
P433issue3
P304page(s)449-456
P577publication date2009-05-23
P1433published inHuman GeneticsQ5937167
P1476titleGross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency
P478volume126