Search

Your search keyword '"Luis Venegas-Tresierra"' showing total 2 results
Start Over Author "Luis Venegas-Tresierra"
2 results on '"Luis Venegas-Tresierra"'

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

Author

Alejandro Zevallos-Morales, Alexis Murillo, Milagros M. Dueñas-Roque, Ana Prötzel, Luis Venegas-Tresierra, Verónica Ángeles-Villalba, Miguel Guevara-Cruz, Ada Chávez-Gil, Ricardo Fujita, and Maria L. Guevara-Fujita

Subjects
ENG, Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu disease, Genetics, QH426-470
Abstract

Abstract 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, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.

Published
2020
Full Text
View/download PDF

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

Author

Ana Protzel, Ada Chávez-Gil, María Luisa Guevara-Fujita, Luis Venegas-Tresierra, Milagros M. Dueñas-Roque, Alexis Murillo, Verónica Ángeles-Villalba, Alejandro Zevallos-Morales, Ricardo Fujita, and Miguel Guevara-Cruz

Subjects
0106 biological sciences, 0301 basic medicine, Telangiectasia hemorrágica hereditaria, QH426-470, Biology, 01 natural sciences, 03 medical and health sciences, Exon, Perú, Genetics, medicine, Missense mutation, Normal protein, Telangiectasia, Molecular Biology, Gene, Hereditary Hemorrhagic Telangiectasia, Mutación, ACVRL1 gene, ENG, 030104 developmental biology, Human and Medical Genetics, Mutation (genetic algorithm), Familia, medicine.symptom, Osler-Weber-Rendu disease, Novel mutation, 010606 plant biology & botany
Abstract

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, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.

Published
2020

Catalog

Books, media, physical & digital resources
See catalog results