Associated Papers
A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia.
Suzuki A et al.
Thrombosis Research, 2012
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.
McDonald J et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL et al.
Journal of Medical Genetics, 2006
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Lesca G et al.
Human Mutation, 2004
Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.
Bayrak-Toydemir P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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