| VRZALOVÁ, Zuzana, Zuzana HRUBÁ, Eva STÁHLOVÁ HRABINCOVÁ, Slávka VRÁBELOVÁ, Felix VOTAVA, Stanislava KOLOUSKOVÁ and Lenka FAJKUSOVÁ. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. UNITED STATES: SPANDIDOS PUBL LTD, vol. 26, No 4, p. 595-603. ISSN 1107-3756. doi:10.3892/ijmm_00000504. 2010. |
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@article{913189,
author = {Vrzalová, Zuzana and Hrubá, Zuzana and Stáhlová Hrabincová, Eva and Vrábelová, Slávka and Votava, Felix and Kolousková, Stanislava and Fajkusová, Lenka},
article_location = {UNITED STATES},
article_number = {4},
doi = {http://dx.doi.org/10.3892/ijmm_00000504},
keywords = {congenital adrenal hyperplasia; steroid 21-hydroxylase; 21-hydroxylase deficiency; pseudogene; chimeric gene},
language = {eng},
issn = {1107-3756},
journal = {INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE},
title = {Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency},
volume = {26},
year = {2010}
}
TY - JOUR
ID - 913189
AU - Vrzalová, Zuzana - Hrubá, Zuzana - Stáhlová Hrabincová, Eva - Vrábelová, Slávka - Votava, Felix - Kolousková, Stanislava - Fajkusová, Lenka
PY - 2010
TI - Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency
JF - INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
VL - 26
IS - 4
SP - 595-603
EP - 595-603
PB - SPANDIDOS PUBL LTD
SN - 11073756
KW - congenital adrenal hyperplasia
KW - steroid 21-hydroxylase
KW - 21-hydroxylase deficiency
KW - pseudogene
KW - chimeric gene
N2 - Congenital adrenal hyperplasia (CAH) is comprised of a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in most of the severe cases, also the biosynthesis of aldosterone. Approximately 90-95% of all the CAH cases are due to mutations in the steroid 21-hydroxylase gene (CYP21A2). In this study, the molecular genetic analysis of CYP21A2 was performed in 267 Czech probands suspected of 21-hydroxylase deficiency (21OHD). 21OHD was confirmed in 241 probands (2 mutations were detected). A set of 30 different mutant alleles was determined.
ER -
VRZALOVÁ, Zuzana, Zuzana HRUBÁ, Eva STÁHLOVÁ HRABINCOVÁ, Slávka VRÁBELOVÁ, Felix VOTAVA, Stanislava KOLOUSKOVÁ and Lenka FAJKUSOVÁ. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. \textit{INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE}. UNITED STATES: SPANDIDOS PUBL LTD, vol.~26, No~4, p.~595-603. ISSN~1107-3756. doi:10.3892/ijmm\_{}00000504. 2010.
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