National mutation study among Danish patients with hereditary haemorrhagic telangiectasia
Author:
Affiliation:
1. HHT Centre OUH, Department of Clinical Genetics
2. Department of Otorhinolaryngology
3. Department of Interventional Radiology; Odense University Hospital and Institute of Clinical Research, University of Southern Denmark; Odense Denmark
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference60 articles.
1. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT);Kjeldsen;J Intern Med,2000
2. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia;Faughnan;J Med Genet,2011
3. PAVM embolization: an update;Trerotola;AJR Am J Roentgenol,2010
4. Interventional treatment of pulmonary arteriovenous malformations;Andersen;World J Radiol,2010
5. Hereditary haemorrhagic telangiectasia a population-based study of prevalence and mortality in Danish patients;Kjeldsen;J Intern Med,1999
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