Associated Papers
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.
Lux A et al.
Orphanet Journal of Rare Diseases, 2013
Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.
Govani FS et al.
Molecular Syndromology, 2013
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.
Schulte C et al.
Human Mutation, 2005
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