Alan E. Guttmacher
- Finding the missing heritability of complex diseases
2009/10/01 by Teri A. Manolio, Francis S. Collins, Nancy J. Cox +25 · 50 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
2000/03/06 by Claire L. Shovlin, Alan E. Guttmacher, Elisabetta Buscarini +6 · 6 citations
Business, Management and Accounting · Medicine · #Sharing Economy and Platforms #Tracheal and airway disorders #Vascular Anomalies and Treatments
- Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
1994/12/01 by Kimberly A. McAllister, K.A. McAllister, K.M. Grogg +32 · 3 citations
Medicine · #ACVRL1 #Biology #Cancer research #Coagulation, Bradykinin, Polyphosphates, and Angioedema #Dysplasia #Endoglin #Gene #Genetic disorder #Genetic linkage #Genetics #Medicine #Molecular biology #Mutation #Pathology #Peptidase Inhibition and Analysis #TGF beta receptor 2 #Telangiectasia #Vascular Anomalies and Treatments