M1761K mutation in the von Willebrand factor A3 domain associated with impaired collagen binding and without platelet dysfunction

Haemophilia. 2016 Jul;22(4):e345-6. doi: 10.1111/hae.12976. Epub 2016 Jun 28.

Authors

D M Ong¹, H Aumann¹, R K Andrews², E E Gardiner², S E Rodgers³, A K Davis¹

Affiliations

¹ Department of Haematology, Alfred Health, Melbourne, Vic., Australia.
² Australian Centre for Blood Diseases, Monash University, Melbourne, Vic., Australia.
³ Haematology Division, SA Pathology, Adelaide, SA, Australia.

PMID: 27354327
DOI: 10.1111/hae.12976

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Blood Platelets / cytology*
Blood Platelets / metabolism
Collagen / metabolism*
Female
Heterozygote
Humans
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Protein Binding
Protein Domains
Young Adult
von Willebrand Diseases / diagnosis
von Willebrand Diseases / genetics
von Willebrand Factor / chemistry
von Willebrand Factor / genetics
von Willebrand Factor / metabolism*

Substances

von Willebrand Factor
Collagen