Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations

Article

Abstract: This report describes the mutational spectrum and linked haplotypes of the phenylalanine hydroxylase

Palabras claves:

Expression analysis, mutation, PKU

Autores:

Desviat L.R., M. De Lucca, Perez B., Ugarte M.

Fuentes:

scopus