An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation.

Détails

ID Serval
serval:BIB_F95C01941BD2
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation.
Périodique
Thrombosis and haemostasis
Auteur⸱e⸱s
Castaman G., Missiaglia E., Federici A.B., Schneppenheim R., Rodeghiero F.
ISSN
0340-6245 (Print)
ISSN-L
0340-6245
Statut éditorial
Publié
Date de publication
08/2000
Peer-reviewed
Oui
Volume
84
Numéro
2
Pages
350-351
Langue
anglais
Notes
Publication types: Letter
Publication Status: ppublish
Mots-clé
DNA Mutational Analysis, Europe/epidemiology, Family Health, Genetic Testing, Genetic Variation, Heterozygote, Humans, Phenotype, Point Mutation/genetics, von Willebrand Diseases/epidemiology, von Willebrand Diseases/genetics, von Willebrand Factor/genetics, von Willebrand Factor/metabolism
Pubmed
Web of science
Création de la notice
26/09/2023 8:53
Dernière modification de la notice
04/10/2023 13:19
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