Identification and computationally-based structural interpretation of naturally occurring variants of human protein C-Reference-Cited by-同舟云学术

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Identification and computationally-based structural interpretation of naturally occurring variants of human protein C

Published:2007 Issue:4 Volume:28 Page:345-355
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Rovida Ermanna,Merati Giuliana,D'Ursi Pasqualina,Zanardelli Sara,Marino Francesca,Fontana Gessica,Castaman Giancarlo,Faioni Elena M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference68 articles.

1. The Protein Data Bank

2. Efficacy and Safety of Recombinant Human Activated Protein C for Severe Sepsis

3. Molecular diversity and thrombotic risk in protein S deficiency: The PROSIT study

4. The refined 1.9-Å X-ray crystal structure of d-Phe-Pro-Arg chloromethylketone-inhibited humanα-thrombin: Structure analysis, overall structure, electrostatic properties, detailed active-site geometry, and structure-function relationships

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1. Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes;Thrombosis and Haemostasis;2023-11-27

2. Genotype–Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency;Thrombosis and Haemostasis;2020-07-27

3. Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency;Thrombosis and Haemostasis;2019-06-29

4. A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases;Journal of Pediatric Genetics;2019-04-01

5. Protein C deficiency (a novel mutation;Blood Coagulation & Fibrinolysis;2018-12

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