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Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement
Authors:Kozak Libor  Hrabincova Eva  Kintr Jaromir  Horky Ondrej  Zapletalova Petra  Blahakova Ivona  Mejstrik Pavel  Prochazkova Dagmar
Affiliation:Center of Molecular Biology and Gene Therapy, University Hospital Brno, Czech Republic. librokoz@hotmail.com
Abstract:
Keywords:Phenylketonuria (PKU)   Phenylalanine hydroxylase (PAH)   Molecular diagnosis   Large deletions   MLPA   Alu elements
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