ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01727.x/fullpdf
Reference16 articles.
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3. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.;Trembath;N Engl J Med,2001
4. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.;Girerd;Am J Respir Crit Care Med,2010
5. A novel assay for allelic discrimination that combines the fluorogenic 5’ nuclease polymerase chain reaction (TaqMan) and mismatch amplification mutation assay.;Glaab;Mutat Res,1999
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