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von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels

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von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels. / Hickson, N; Hampshire, D; Winship, P; Goudemand, J; Schneppenheim, R; Budde, U; Castaman, G; Rodeghiero, F; Federici, A B; James, P; Peake, I; Eikenboom, J; Goodeve, A; MCMDM-1VWD and ZPMCB-VWD study groups.

in: J THROMB HAEMOST, Jahrgang 8, Nr. 9, 9, 09.2010, S. 1986-1993.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Hickson, N, Hampshire, D, Winship, P, Goudemand, J, Schneppenheim, R, Budde, U, Castaman, G, Rodeghiero, F, Federici, AB, James, P, Peake, I, Eikenboom, J, Goodeve, A & MCMDM-1VWD and ZPMCB-VWD study groups 2010, 'von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels', J THROMB HAEMOST, Jg. 8, Nr. 9, 9, S. 1986-1993. https://doi.org/10.1111/j.1538-7836.2010.03927.x

APA

Hickson, N., Hampshire, D., Winship, P., Goudemand, J., Schneppenheim, R., Budde, U., Castaman, G., Rodeghiero, F., Federici, A. B., James, P., Peake, I., Eikenboom, J., Goodeve, A., & MCMDM-1VWD and ZPMCB-VWD study groups (2010). von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels. J THROMB HAEMOST, 8(9), 1986-1993. [9]. https://doi.org/10.1111/j.1538-7836.2010.03927.x

Vancouver

Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U et al. von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels. J THROMB HAEMOST. 2010 Sep;8(9):1986-1993. 9. https://doi.org/10.1111/j.1538-7836.2010.03927.x

Bibtex

@article{4c6045f58ac340b39c175eee76534305,
title = "von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels",
abstract = "von Willebrand factor (VWF) variant c.2771G>A; p.R924Q has been described as a benign polymorphism or a possible marker for a null allele and been associated with mild bleeding phenotypes. It was identified in several patients in recent type 1 von Willebrand disease (VWD) studies.",
keywords = "ABO Blood-Group System, Alleles, Arginine, Case-Control Studies, Factor VIII, Founder Effect, Genetic Variation, Genotype, Glutamine, Heterozygote, Humans, Mutation, Phenotype, Recombinant Proteins, von Willebrand Diseases, von Willebrand Factor",
author = "N Hickson and D Hampshire and P Winship and J Goudemand and R Schneppenheim and U Budde and G Castaman and F Rodeghiero and Federici, {A B} and P James and I Peake and J Eikenboom and A Goodeve and {MCMDM-1VWD and ZPMCB-VWD study groups}",
note = "{\textcopyright} 2010 International Society on Thrombosis and Haemostasis.",
year = "2010",
month = sep,
doi = "10.1111/j.1538-7836.2010.03927.x",
language = "English",
volume = "8",
pages = "1986--1993",
journal = "J THROMB HAEMOST",
issn = "1538-7933",
publisher = "Wiley-Blackwell",
number = "9",

}

RIS

TY - JOUR

T1 - von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels

AU - Hickson, N

AU - Hampshire, D

AU - Winship, P

AU - Goudemand, J

AU - Schneppenheim, R

AU - Budde, U

AU - Castaman, G

AU - Rodeghiero, F

AU - Federici, A B

AU - James, P

AU - Peake, I

AU - Eikenboom, J

AU - Goodeve, A

AU - MCMDM-1VWD and ZPMCB-VWD study groups

N1 - © 2010 International Society on Thrombosis and Haemostasis.

PY - 2010/9

Y1 - 2010/9

N2 - von Willebrand factor (VWF) variant c.2771G>A; p.R924Q has been described as a benign polymorphism or a possible marker for a null allele and been associated with mild bleeding phenotypes. It was identified in several patients in recent type 1 von Willebrand disease (VWD) studies.

AB - von Willebrand factor (VWF) variant c.2771G>A; p.R924Q has been described as a benign polymorphism or a possible marker for a null allele and been associated with mild bleeding phenotypes. It was identified in several patients in recent type 1 von Willebrand disease (VWD) studies.

KW - ABO Blood-Group System

KW - Alleles

KW - Arginine

KW - Case-Control Studies

KW - Factor VIII

KW - Founder Effect

KW - Genetic Variation

KW - Genotype

KW - Glutamine

KW - Heterozygote

KW - Humans

KW - Mutation

KW - Phenotype

KW - Recombinant Proteins

KW - von Willebrand Diseases

KW - von Willebrand Factor

U2 - 10.1111/j.1538-7836.2010.03927.x

DO - 10.1111/j.1538-7836.2010.03927.x

M3 - SCORING: Journal article

C2 - 20492463

VL - 8

SP - 1986

EP - 1993

JO - J THROMB HAEMOST

JF - J THROMB HAEMOST

SN - 1538-7933

IS - 9

M1 - 9

ER -