TY  - JOUR
AU  - Errasti Díaz, Suriel
AU  - Peñalva, Mercedes
AU  - Recio Poveda, Lucía
AU  - Vilches, Susana
AU  - Casado Vela, Juan
AU  - Pérez Pérez, Julián
AU  - Botella, Luisa María
AU  - Albiñana, Virginia
AU  - Cuesta Martínez, Ángel
PY  - 2022
DO  - 10.3390/jcm11113053
SN  - 2077-0383
UR  - https://hdl.handle.net/20.500.14352/71727
T2  - Journal of Clinical Medicine
AB  - Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. Different deletions or nonsense mutations have been...
LA  - eng
M2  - 3053
PB  - MPDI
KW  - ACVRL1/ALK1
KW  - hereditary hemorrhagic telangiectasia
KW  - splicing mutation
KW  - Osler-Weber-Rendu disease
TI  - A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2
TY  - journal article
VL  - 11
ER  -