| VRZALOVÁ, Zuzana, Zuzana HRUBÁ, Eva HRABINCOVÁ, Slávka VRÁBELOVÁ, Felix VOTAVA, Stanislava KOLOUŠKOVÁ and Lenka FAJKUSOVÁ. Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia. European Journal of Medical Genetics. vol. 54, No 2, p. 112-117. ISSN 1769-7212. doi:10.1016/j.ejmg.2010.10.005. 2011. |
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@article{918746,
author = {Vrzalová, Zuzana and Hrubá, Zuzana and Hrabincová, Eva and Vrábelová, Slávka and Votava, Felix and Koloušková, Stanislava and Fajkusová, Lenka},
article_number = {2},
doi = {http://dx.doi.org/10.1016/j.ejmg.2010.10.005},
keywords = {Congenital adrenal hyperplasia; chimeric gene},
language = {eng},
issn = {1769-7212},
journal = {European Journal of Medical Genetics},
title = {Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia},
volume = {54},
year = {2011}
}
TY - JOUR
ID - 918746
AU - Vrzalová, Zuzana - Hrubá, Zuzana - Hrabincová, Eva - Vrábelová, Slávka - Votava, Felix - Koloušková, Stanislava - Fajkusová, Lenka
PY - 2011
TI - Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia
JF - European Journal of Medical Genetics
VL - 54
IS - 2
SP - 112-117
EP - 112-117
SN - 17697212
KW - Congenital adrenal hyperplasia
KW - chimeric gene
N2 - Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in the majority of severe cases, also the biosynthesis of aldosterone. Approximately 95% of all CAH cases are caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). The CYP21A2 gene and its inactive pseudogene (CYP21A1P) are located within the HLA class III region of the major histocompatibility complex (MHC) locus on chromosome 6p21.3.
ER -
VRZALOVÁ, Zuzana, Zuzana HRUBÁ, Eva HRABINCOVÁ, Slávka VRÁBELOVÁ, Felix VOTAVA, Stanislava KOLOUŠKOVÁ and Lenka FAJKUSOVÁ. Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia. \textit{European Journal of Medical Genetics}. vol.~54, No~2, p.~112-117. ISSN~1769-7212. doi:10.1016/j.ejmg.2010.10.005. 2011.
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