TY  - GEN 
AU  - Albiñana, Virginia
AU  - Zafra, María Paz
AU  - Colau, Jorge
AU  - Zarrabeitia, Roberto
AU  - Recio-Poveda, Lucía
AU  - Olavarrieta, Leticia
AU  - Pérez-Pérez, Julián
AU  - Botella, Luisa M.
PY  - 2017
UR  - https://hdl.handle.net/10481/100436
AB  - Background: Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic
criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial
inheritance. HHT is...
LA  - eng
PB  - Springer Nature
KW  - Endoglin promoter
KW  - Hereditary hemorrhagic telangiectasia (HHT)
KW  - Rare disease
KW  - Transcription regulation
TI  - Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1
DO  - 10.1186/s12881-017-0380-0
ER  -