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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 and 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, p.~10. ISSN~0141-8955.
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