A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2 Articles uri icon

authors

  • ERRASTI DIAZ, SURIEL
  • PEÑALVA, MERCEDES
  • RECIO POVEDA, LUCIA
  • VILCHES, SUSANA
  • CASADO VELA, JUAN
  • PEREZ PEREZ, JULIAN
  • BOTELLA, LUISA MARIA
  • ALBIÑANA, VIRGINIA
  • CUESTA, ANGEL M.

publication date

  • May 2022

start page

  • 1

end page

  • 10

issue

  • 11

volume

  • 11

International Standard Serial Number (ISSN)

  • 2077-0383

keywords

  • acvrl1/alk1; hereditary hemorrhagic telangiectasia; splicing mutation; osler-weber-rendu disease