Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern Colombia

ABSTRACT: Huntington's disease (HD) is a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin (HTT) gene. Juan de Acosta, Atlántico, a city located on the Caribbean coast of Colombia, is home to the world's second-largest HD pedigree. Here, we include 291 descendants...

Full description

Autores:

Arcos Burgos, Oscar Mauricio
Pineda Salazar, David Antonio
Ríos Anillo, Margarita Rosa
Acosta López, Johan
Cervantes Henríquez, Martha Lucía
Martínez Banfi, Martha
Pineda Alhucema, Wilmar
Puentes Rozo, Pedro
Sánchez Barros, Cristian
Pinzón, Andrés
Patel, Hardip R.
Vélez Valbuena, Jorge Iván
Villarreal Camacho, José Luis
Ahmad, Mostapha
Sánchez Rojas, Manuel

Tipo de recurso:

Article of investigation

Fecha de publicación:

2023

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/42130

Acceso en línea:

https://hdl.handle.net/10495/42130

Palabra clave:

Alleles
Alelos
DNA
ADN
Huntingtin Protein
Proteína Huntingtina
Huntington Disease
Enfermedad de Huntington
Pedigree
Linaje
Trinucleotide Repeat Expansion
Expansión de Repetición de Trinucleótido
https://id.nlm.nih.gov/mesh/D000483
https://id.nlm.nih.gov/mesh/D004247
https://id.nlm.nih.gov/mesh/D000071058
https://id.nlm.nih.gov/mesh/D006816
https://id.nlm.nih.gov/mesh/D010375
https://id.nlm.nih.gov/mesh/D019680

Rights

openAccess

License

http://creativecommons.org/licenses/by/2.5/co/