The EAHAD blood coagulation factor VII variant database-Reference-Cited by-同舟云学术

The EAHAD blood coagulation factor VII variant database

Published:2020-04-29 Issue:7 Volume:41 Page:1209-1219
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Giansily‐Blaizot Muriel¹^ORCID,Rallapalli Pavithra M.²^ORCID,Perkins Stephen J.²^ORCID,Kemball‐Cook Geoffrey³^ORCID,Hampshire Daniel J.⁴^ORCID,Gomez Keith³^ORCID,Ludlam Christopher A.⁵,McVey John H.⁶^ORCID

Affiliation:

1. Hematologie Biologique, CHU MontpellierUniversity of MontpellierMontpellier France

2. Department of Structural and Molecular BiologyUniversity College LondonLondon UK

3. Katherine Dormandy Haemophilia Centre Thrombosis UnitRoyal Free London NHS Foundation TrustLondon UK

4. Department of Biomedical SciencesUniversity of HullHull UK

5. Clinical Sciences, Edinburgh Medical SchoolUniversity of EdinburghEdinburgh UK

6. Department of Biochemical Sciences, School of Biosciences and MedicineUniversity of SurreyGuildford UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24025

Reference34 articles.

1. Two new missense mutations (P134T and A244V) in the coagulation factor VII gene

2. Factor VII Gene Polymorphisms Contribute About One Third of the Factor VII Level Variation in Plasma

3. UMD (Universal Mutation Database): 2005 update

4. The importance of tissue factor source in the management of Factor VII deficiency

5. Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency

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