Identification and characterization of large deletions on the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non homologous mechanism of rearrangement

• Authors: KOZÁK Libor; HRABINCOVÁ Eva; KINTR Jaromír; HORKÝ Ondřej; ZAPLETALOVÁ Petra; BLAHAKOVA Ivona; MEJSTŘÍK Pavel; PROCHÁZKOVÁ Dagmar
• Year of publication: 2006
• Type: Article in Periodical
• Magazine / Source: Molecular Genetics and Metabolism
• MU Faculty or unit: Faculty of Medicine
• web: http://www.elsevier.com/locate/ymgme
• Field: Genetics and molecular biology
• Keywords: PKU PAH molecular diagnosis large deletions alu elements
• Description: We describe results of DNA analysis in PAH gene (PKU)