학술논문
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population
Document Type
Academic Journal
Author
Source
Pediatrics. April 1996, Vol. 97 Issue 4, p512, 5 p.
Subject
Language
English
ISSN
0031-4005
Abstract
ABBREVIATIONS. PKU, phenylketonuria; PAH, phenylalanine hydroxylase; VNTR, variable number of tandem repeat; HPA, hyperphenylalaninemia; PHE, phenylalanine; PCR, polymerase chain reaction; DGGE, denaturing gradient gel electrophoresis. Phenylketonuria (PKU; McKusick's Mendelian inheritance [...]