Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene...

Descripción completa

Detalles Bibliográficos
Autores principales: Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, d. M. Carvalho, Lilian, Lacerda, Lúcia, G. Ribeiro, Márcia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081236/
https://www.ncbi.nlm.nih.gov/pubmed/29749107
http://dx.doi.org/10.1002/mgg3.408

Ejemplares similares

Ejemplares similares