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@inproceedings{751336, author = {Kozák, L. and Hrabincova, E. and Horky, O. and Vulturar, R.}, address = {Netherlands}, booktitle = {Journal of inherited metabolic disease}, edition = {30 (suppl.1)}, keywords = {phenylketonuria; PKU; PAH; MLPA}, language = {eng}, location = {Netherlands}, pages = {10-10}, publisher = {Kluwer}, title = {Characterization of 8kb deletion in the phenylalanine hydroxylase (PAH) gene}, year = {2007} }
TY - JOUR ID - 751336 AU - Kozák, L. - Hrabincova, E. - Horky, O. - Vulturar, R. PY - 2007 TI - Characterization of 8kb deletion in the phenylalanine hydroxylase (PAH) gene PB - Kluwer CY - Netherlands KW - phenylketonuria KW - PKU KW - PAH KW - MLPA N2 - MLPA analysis was performed in one PKU family from Romania where one mutation was missing. Deletion of exon 6 of PAH gene was detected in the proband. To determine the area of the deletion breakpoint, purified aberrant long-range PCR products were digested with various restriction endonucleases. Fine mapping of the deletion breakpoint was then achieved by using direct sequencing. Breakpoint analysis of the deletion showed loss of 8kb including the entire exon 6. ER -
KOZÁK, L., E. HRABINCOVA, O. HORKY a R. VULTURAR. Characterization of 8kb deletion in the phenylalanine hydroxylase (PAH) gene. In \textit{Journal of inherited metabolic disease}. 30 (suppl.1). Netherlands: Kluwer, 2007, s.~10. ISSN~0141-8955.
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