| KOZÁK, Libor, Eva HRABINCOVÁ, Jaromír KINTR, Ondřej HORKÝ, Petra ZAPLETALOVÁ, Ivona BLAHAKOVA, Pavel MEJSTŘÍK and Dagmar PROCHÁZKOVÁ. Identification and characterization of large deletions on the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non homologous mechanism of rearrangement. Molecular Genetics and Metabolism. Elsevier, 2006, vol. 89, No 4, p. 300-309. ISSN 1096-7192. |
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@article{833278,
author = {Kozák, Libor and Hrabincová, Eva and Kintr, Jaromír and Horký, Ondřej and Zapletalová, Petra and Blahakova, Ivona and Mejstřík, Pavel and Procházková, Dagmar},
article_number = {4},
keywords = {PKU PAH molecular diagnosis large deletions alu elements},
language = {eng},
issn = {1096-7192},
journal = {Molecular Genetics and Metabolism},
title = {Identification and characterization of large deletions on the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non homologous mechanism of rearrangement},
url = {http://www.elsevier.com/locate/ymgme},
volume = {89},
year = {2006}
}
TY - JOUR
ID - 833278
AU - Kozák, Libor - Hrabincová, Eva - Kintr, Jaromír - Horký, Ondřej - Zapletalová, Petra - Blahakova, Ivona - Mejstřík, Pavel - Procházková, Dagmar
PY - 2006
TI - Identification and characterization of large deletions on the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non homologous mechanism of rearrangement
JF - Molecular Genetics and Metabolism
VL - 89
IS - 4
SP - 300-309
EP - 300-309
PB - Elsevier
SN - 10967192
KW - PKU PAH molecular diagnosis large deletions alu elements
UR - http://www.elsevier.com/locate/ymgme
L2 - http://www.elsevier.com/locate/ymgme
N2 - We describe results of DNA analysis in PAH gene (PKU)
ER -
KOZÁK, Libor, Eva HRABINCOVÁ, Jaromír KINTR, Ondřej HORKÝ, Petra ZAPLETALOVÁ, Ivona BLAHAKOVA, Pavel MEJSTŘÍK and Dagmar PROCHÁZKOVÁ. Identification and characterization of large deletions on the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non homologous mechanism of rearrangement. \textit{Molecular Genetics and Metabolism}. Elsevier, 2006, vol.~89, No~4, p.~300-309. ISSN~1096-7192.
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