Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

Enzymatic loss in alkaptonuria (AKU), an autosomal recessive disorder, is caused by mutations in the homogentisate 1,2 dioxygenase (HGD) gene, which decrease or completely inactivate the function of the HGD protein to metabolize homogentisic acid (HGA). AKU shows a very low prevalence (1:100,000–250...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Zatkova, Andrea, Sedlackova, Tatiana, Radvansky, Jan, Polakova, Helena, Nemethova, Martina, Aquaron, Robert, Dursun, Ismail, Usher, Jeannette L., Kadasi, Ludevit
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509877/
https://ncbi.nlm.nih.gov/pubmed/23430897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_68
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados