Article
Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations.
Human mutation - 1 Jan 1998
De Lucca M, Pérez B, Desviat L R, Ugarte M
Abstract excerpt
This report describes the mutational spectrum and linked haplotypes of the phenylalanine hydroxylase gene in Venezuela. In this study, we have detected European mutations such as IVS10nt-11, R243Q, and R408W on the same haplotype background (6.7, 1.8, and 2.3, respectively) as in Europe. In this sample, we have found two novel mutations: S349L detected in two homozygous siblings on the background of haplotype...
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