Associated Papers
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME et al.
Blood, 2024
38457357 (PubMed )
Supplement: BLOOD_BLD-2023-021777-mmc1.pdf
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J et al.
Human Genetics, 2010
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