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. 2011, vol. 54, No 2, p. 112-117. ISSN 1769-7212. Available from: https://dx.doi.org/10.1016/j.ejmg.2010.10.005. |
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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}. 2011, vol.~54, No~2, p.~112-117. ISSN~1769-7212. Available from: https://dx.doi.org/10.1016/j.ejmg.2010.10.005.
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