A Novel Splice Acceptor Site Mutation of Protein S Gene in Affected Individuals with Type I Protein S Deficiency: Allelic Exclusion of the Mutant Gene-Reference-Cited by-同舟云学术

A Novel Splice Acceptor Site Mutation of Protein S Gene in Affected Individuals with Type I Protein S Deficiency: Allelic Exclusion of the Mutant Gene

Published:2001-03 Issue:5 Volume:101 Page:387-393
ISSN:0049-3848
Container-title:Thrombosis Research
language:en
Short-container-title:Thrombosis Research

Author:

Nakahara Mutsuko,Iida Hiroko,Urata Michiyo,Fujise Masako,Wakiyama Machiko,Kinoshita Sachiko,Tsuda Hiroko,Okamura Takashi,Yao Kenshi,Yao Tsuneyoshi,Hamasaki Naotaka

Publisher

Elsevier BV

Subject

Hematology

Reference16 articles.

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3. The human C4b-binding protein β-chain gene;Hillarp;J Biol Chem,1993

4. Protein C and protein S deficiencies;Aiach;Semin Hematol,1997

5. Resistance to activated protein C as risk factor for thrombosis: molecular mechanisms, laboratory investigation and clinical management;Dahlback;Semin Hematol,1997

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1. A Novel Splice Donor Site Mutation Leading to Inherited Type I Protein S Deficiency;Annals of Vascular Diseases;2024

2. Vitamin K-dependent protein S: Function and etiological significance;Japanese Journal of Thrombosis and Hemostasis;2019

3. Activated Protein C Anticoagulant System Dysfunction and Thrombophilia in Asia;Annals of Laboratory Medicine;2013-01-01

4. PROS1analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations;Human Mutation;2008-07

5. Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency;Haematologica;2008-04-01