Publications:

Autologous correction in patient induced pluripotent stem cell-endothelial cells to identify a novel pathogenic mutation of hereditary hemorrhagic telangiectasia.

Pulmonary Circulation

Zhou, Fang F; Zhao, Xiuli X; Liu, Xiu X; Liu, Yanyan Y; Ma, Feng F; Liu, Bao B; Yang, Jun J

Publication Date: 2020

Variant appearance in text: ENG: C30*

PubMed Link: 33282178

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• 10.1177_2045894019885357.pdf

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Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Molecular Syndromology

Govani, F S FS; Giess, A A; Mollet, I G IG; Begbie, M E ME; Jones, M D MD; Game, L L; Shovlin, C L CL

Publication Date: 2013-04

Variant appearance in text: ENG: 90T>A

PubMed Link: 23801935

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

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PubMed Link: 15879500

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