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
[Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree].
Cheng XH et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2015
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J et al.
Human Genetics, 2010
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD et al.
Human Mutation, 2006
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