Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA)-Reference-Cited by-同舟云学术

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

Published:2009-03 Issue:5 Volume:123 Page:793-795
ISSN:0049-3848
Container-title:Thrombosis Research
language:en
Short-container-title:Thrombosis Research

Author:

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

Publisher

Elsevier BV

Subject

Hematology

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2. The gene for protein S maps near the centromere of human chromosome 3;Watkins;Blood,1988

3. Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization;Edenbrandt;Biochemistry,1990

4. Protein S deficiency: a database of mutations–summary of the first update;Gandrille;Thromb Haemost,2000

5. Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study;Biguzzi;Hum Mutat,2005

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1. Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China;Thrombosis and Haemostasis;2019-01-22

2. Identification of a novel large deletion in a patient with severe factor V deficiency using an in-houseF5MLPA assay;Haemophilia;2014-11-30

3. Portal-Splenic-Mesenteric Venous Thrombosis in a Patients with Protein S Deficiency due to NovelPROS1Gene Mutation;The Korean Journal of Gastroenterology;2014

4. First report of a large PROS1 deletion from exon 1 through 12 detected in Polish patients with deep-vein thrombosis;Thrombosis Research;2013-07

5. Small and large PROS1 deletions but no other types of rearrangements detected in patients with protein S deficiency;Thrombosis and Haemostasis;2012