Single exon deletions in the PAH gene in Polish PKU-patients

Molecular Genetics and Metabolism

Volumn 94, Issue 2, 2008, Pages 267-

  Bik Multanowski, Miroslaw ^a   Pietrzyk, Jacek J ^a  

^a JAGIELLONIAN UNIVERSITY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

DIAGNOSTIC PROCEDURE; DNA DETERMINATION; EXON; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETERODUPLEX ANALYSIS; LETTER; MISSENSE MUTATION; PHENYLKETONURIA; POLAND; POLYCYCLIC AROMATIC HYDROCARBON GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALLELES; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; GENE DELETION; HUMANS; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMERASE CHAIN REACTION;

EID: 43249114545     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.02.007     Document Type: Letter

References (1)

1. Kozak L., Hrabincowa E., Kintr J., et al. Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement. Mol. Genet. Metab. 89 (2006) 300-306