Protein S secretion differences of missense mutants account for phenotypic heterogeneity
Y Espinosa-Parrilla, T Yamazaki, N Sala… - Blood, The Journal …, 2000 - ashpublications.org
To elucidate the molecular background for the heterogeneity in protein S plasma
concentrations observed in protein S deficient individuals, the in vitro synthesis of …
concentrations observed in protein S deficient individuals, the in vitro synthesis of …
Protein S deficiency: a database of mutations–summary of the first update
S Gandrille, D Borgel, N Sala… - Thrombosis and …, 2000 - thieme-connect.com
Protein S is a vitamin K dependent protein whose inherited deficiency is a well recognized
risk factor for venous thrombosis. Its role is to act as activated protein C cofactor in factor Va …
risk factor for venous thrombosis. Its role is to act as activated protein C cofactor in factor Va …
Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group
RE Simmonds, H Ireland, G Kunz, DA Lane - 1996 - ashpublications.org
Protein S is a protein C-dependent and independent inhibitor of the coagulation cascade.
Deficiency of protein S is an established risk factor for venous thromboembolism. We have …
Deficiency of protein S is an established risk factor for venous thromboembolism. We have …
Identification of eight point mutations in protein S deficiency type I–analysis of 15 pedigrees
PH Reitsma, E Gómez, SR Poort… - Thrombosis and …, 1995 - thieme-connect.com
We describe molecular genetic studies of 15 patients with protein S deficiency type I (ie
reduced total protein S antigen). All the exons of the PROS 1 gene were analyzed both by …
reduced total protein S antigen). All the exons of the PROS 1 gene were analyzed both by …
Genotype and laboratory and clinical phenotypes of protein s deficiency
S Duebgen, T Kauke, C Marschall… - American journal of …, 2012 - academic.oup.com
The diagnosis of thrombophilia caused by protein S deficiency remains difficult. From 2005
to 2010, we documented 135 patients with suspected hereditary protein S deficiency for …
to 2010, we documented 135 patients with suspected hereditary protein S deficiency for …
[HTML][HTML] Protein S deficiency type I: identification of point mutations in 9 of 10 families
S Mustafa, I Pabinger, C Mannhalter - Blood, 1995 - Elsevier
We identified potentially causative mutations in the active protein S gene (PROS 1) by direct
sequencing of PROS 1-specific polymerase chain reaction (PCR) products of all 15 exons …
sequencing of PROS 1-specific polymerase chain reaction (PCR) products of all 15 exons …
Identification of protein Sα gene mutations including four novel mutations in eight unrelated patients with protein S deficiency
H Okada, A Takagi, T Murate, T Adachi… - British journal of …, 2004 - Wiley Online Library
Eight distinct and potentially causative mutations were identified in eight unrelated
Japanese patients with protein S (PS) deficiency, by direct DNA sequencing of the protein …
Japanese patients with protein S (PS) deficiency, by direct DNA sequencing of the protein …
Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening …
CJ Formstone, AI Wacey, LP Berg, S Rahman, D Bevan… - 1995 - ashpublications.org
The molecular genetic analysis of protein S deficiency has been hampered by the
complexity of the protein S (PROS) gene and by the existence of a homologous …
complexity of the protein S (PROS) gene and by the existence of a homologous …
Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene
J Hermida, EM Faioni… - Thrombosis and …, 1999 - thieme-connect.com
By single strand conformational polymorphism, nucleotide sequencing and enzyme
restriction, we analyzed the protein S α gene in 17 protein S-deficient probands and in their …
restriction, we analyzed the protein S α gene in 17 protein S-deficient probands and in their …