Mutation study of spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of endoglin and ALK1

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder originated by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. The first large series HHT analysis in Spanish population has identified mutations in 17 unrelate...

Full description

Autores:
Tipo de recurso:
Fecha de publicación:
2006
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/24226
Acceso en línea:
https://doi.org/10.1002/humu.9413
https://repository.urosario.edu.co/handle/10336/24226
Palabra clave:
Activin receptor 2
Cell surface receptor
Leukocyte antigen
Adolescent
Adult
Age
Aged
Article
Child
Gene expression regulation
Genetic variability
Genetics
Human
Middle aged
Missense mutation
Nucleotide sequence
Preschool child
Rendu osler weber disease
Spain
Adolescent
Adult
Age factors
Aged
Aged, 80 and over
Child
Dna mutational analysis
Gene expression regulation
Humans
Middle aged
Spain
Variation (genetics)
Acvrl1
Alk1
Endoglin
Endothelial cells
Eng
Hht
Tgf-?
preschool
type ii
cd
cell surface
hereditary hemorrhagic
human
human
missense
Acvrl1 protein
Eng protein
Activin receptors
Antigens
Child
Mutation
Receptors
Telangiectasia
Rights
License
Abierto (Texto Completo)