Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, signi...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Genet Mol Biol
Autori principali: Zevallos-Morales, Alejandro, Murillo, Alexis, Dueñas-Roque, Milagros M., Prötzel, Ana, Venegas-Tresierra, Luis, Ángeles-Villalba, Verónica, Guevara-Cruz, Miguel, Chávez-Gil, Ada, Fujita, Ricardo, Guevara-Fujita, Maria L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Sociedade Brasileira de Genética 2020
Soggetti:
Human and Medical Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229872/
https://ncbi.nlm.nih.gov/pubmed/32105286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2019-0126
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi