scholarly article | Q13442814 |
P50 | author | Pieter Reitsma | Q77086866 |
Delphine Borgel | Q43228901 | ||
Sophie Gandrille | Q57948386 | ||
P2093 | author name string | C A Spek | |
A A Garcia | |||
M Alhenc-Gelas | |||
M C H de Visser | |||
Maria C Pintao | |||
P2860 | cites work | Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency | Q78125755 |
Characterization of the human protein S gene promoter: a possible role of transcription factors Sp1 and HNF3 in liver | Q79339902 | ||
Re-evaluation of the role of the protein S-C4b binding protein complex in activated protein C-catalyzed factor Va-inactivation | Q80412894 | ||
Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification | Q81303498 | ||
A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency | Q81445941 | ||
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 amplification | Q24530153 | ||
High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein | Q28610986 | ||
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion | Q29616531 | ||
Organization of the human protein S genes | Q33868048 | ||
Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: duplication and silencing during primate evolution | Q33868055 | ||
Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. | Q34124313 | ||
Genetic susceptibility to venous thrombosis | Q34223106 | ||
Phosphodiesterase-4 inhibition attenuates pulmonary inflammation in neonatal lung injury | Q34727917 | ||
Diagnosing protein S deficiency: analytical considerations | Q35111233 | ||
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease | Q35649549 | ||
Protein S deficiency: a clinical perspective | Q37163507 | ||
The Human Gene Mutation Database: 2008 update | Q41809836 | ||
The constitutive expression of anticoagulant protein S is regulated through multiple binding sites for Sp1 and Sp3 transcription factors in the protein S gene promoter | Q42494672 | ||
A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families | Q43720749 | ||
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 deficiency | Q50771822 | ||
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 pathways | Q55060438 | ||
Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1 | Q61634596 | ||
Protein S deficiency: a database of mutations--summary of the first update | Q61835572 | ||
Molecular basis for protein S hereditary deficiency: Genetic defects observed in 118 patients with type I and type IIa deficiencies1 | Q61835615 | ||
Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families | Q61835629 | ||
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 gene | Q61835634 | ||
Partial protein S gene deletion in a family with hereditary thrombophilia | Q69293946 | ||
Two genes homologous with human protein S cDNA are located on chromosome 3 | Q69915860 | ||
An abnormal plasma distribution of protein S occurs in functional protein S deficiency | Q69985232 | ||
Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees | Q71543593 | ||
Inherited thrombophilia: Part 1 | Q71848947 | ||
Blood coagulation | Q73814629 | ||
A study of Protein S antigen levels in 3788 healthy volunteers: influence of age, sex and hormone use, and estimate for prevalence of deficiency state | Q73942310 | ||
P433 | issue | 3 | |
P304 | page(s) | 449-456 | |
P577 | publication date | 2009-05-23 | |
P1433 | published in | Human Genetics | Q5937167 |
P1476 | title | Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency | |
P478 | volume | 126 |