Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1

Autor: Snellings, Daniel A., Gallione, Carol J., Clark, Dewi S., Vozoris, Nicholas T., Faughnan, Marie E., Marchuk, Douglas A.
Zdroj: In The American Journal of Human Genetics 7 November 2019 105(5):894-906
Databáze: ScienceDirect