A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient
TH Open
.
2020 Oct 27;4(4):e318-e321.
doi: 10.1055/s-0040-1718703.
eCollection 2020 Oct.
Authors
Marie Daniela Dubois
1
,
Serge Pierre-Louis
2
,
Johalène Rabout
2
,
Cécile V Denis
3
,
Olivier Christophe
3
,
Sophie Susen
4
,
Jenny Goudemand
4
,
Pierre Boisseau
5
,
Rémi Neviere
1
6
,
Olivier Pierre-Louis
1
Affiliations
1
EA 7525 VPMC, Université des Antilles, Schoelcher, Martinique, France.
2
Ressources and Competence Center for Constitutional Hemorrhagic Diseases (CRC-MHC), CHU Martinique, Martinique, France.
3
HITh, UMR_S1176, INSERM, Université Paris-Saclay, Le Kremlin-Bicêtre cedex, France.
4
Department of Hematology and Transfusion, CHU Lille, Lille, France.
5
Department of Medical Genetics, Hôtel-Dieu Hospital, CHU Nantes, Nantes, France.
6
Fort-de-France, CHU Martinique, Martinique, France.
PMID:
33134807
PMCID:
PMC7591350
DOI:
10.1055/s-0040-1718703
No abstract available
Grants and funding
Funding
This study was supported by Octapharma France and doctoral scholarships.