Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.

Human mutation

Volumn 17, Issue 5, 2001, Pages 432-

  O'Donnell, K A ^a   Tighe, O ^a   O'Neill, C ^a   Naughten, E ^a   Mayne, P D ^a   McCarthy, T V ^a   Vaughan, P ^a   Croke, D T ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA GLYCOSYLTRANSFERASE; GLYCOSIDASE; PHENYLALANINE 4 MONOOXYGENASE; URACIL DNA GLYCOSIDASE;

ALLELE; ARTICLE; ENZYMOLOGY; EXON; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; IRELAND; METABOLISM; METHODOLOGY; MISSENSE MUTATION; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; TIME;

ALLELES; BASE SEQUENCE; DNA GLYCOSYLASES; DNA MUTATIONAL ANALYSIS; EXONS; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HUMANS; INFANT, NEWBORN; IRELAND; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; N-GLYCOSYL HYDROLASES; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TIME FACTORS; URACIL-DNA GLYCOSIDASE;

EID: 0035347170     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1120     Document Type: Article

References (0)