التفاصيل البيبلوغرافية
العنوان:
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease
المؤلفون:
Roseline D'Oiron , Antoine Rauch , Sandrine MEUNIER , Cecile Denis , Benoit Guillet , Yesim Dargaud , Sophie Susen , Sophie VOISIN , Yohann REPESSE , HERVE CHAMBOST , Claude Negrier , Michaela Fontenay , Jean-Christophe GRIS , Valerie Proulle , Anne Lienhart , Jean-Francois Schved , Valérie Chamouard
المصدر:
Medicine . 95:e3038
بيانات النشر:
Ovid Technologies (Wolters Kluwer Health), 2016.
سنة النشر:
2016
مصطلحات موضوعية:
congenital, hereditary, and neonatal diseases and abnormalities , Mutation , biology , business.industry , Genetic counseling , General Medicine , 030204 cardiovascular system & hematology , Platelet membrane glycoprotein , medicine.disease , medicine.disease_cause , Phenotype , 3. Good health , 03 medical and health sciences , 0302 clinical medicine , Von Willebrand factor , hemic and lymphatic diseases , Immunology , Genotype , Von Willebrand disease , medicine , biology.protein , Missense mutation , business , circulatory and respiratory physiology , 030215 immunology
الوصف:
von Willebrand disease (VWD) is a genetic bleeding disease due to a defect of von Willebrand factor (VWF), a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels
تدمد:
0025-7974
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_________::feae36ea541b73630e439bb31af32f6f https://doi.org/10.1097/md.0000000000003038
حقوق:
OPEN
رقم الأكسشن:
edsair.doi...........feae36ea541b73630e439bb31af32f6f
قاعدة البيانات:
OpenAIRE
