Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of cardiac valves. AKU is due to mutations in the homogentisa...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Vilboux, Thierry, Kayser, Michael, Introne, Wendy, Suwannarat, Pim, Bernardini, Isa, Fischer, Roxanne, O’Brien, Kevin, Kleta, Robert, Huizing, Marjan, Gahl, William A.
Formato: Artigo
Idioma:Inglês
Publicado: 2009
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2830005/
https://ncbi.nlm.nih.gov/pubmed/19862842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21120
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares