VRZALOVÁ, Zuzana, Zuzana HRUBÁ, Eva STÁHLOVÁ HRABINCOVÁ, Slávka VRÁBELOVÁ, Felix VOTAVA, Stanislava KOLOUSKOVÁ a Lenka FAJKUSOVÁ. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. UNITED STATES: SPANDIDOS PUBL LTD, 2010, roč. 26, č. 4, s. 595-603. ISSN 1107-3756. Dostupné z: https://dx.doi.org/10.3892/ijmm_00000504. |
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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 a 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, 2010, roč.~26, č.~4, s.~595-603. ISSN~1107-3756. Dostupné z: https://dx.doi.org/10.3892/ijmm\_{}00000504.
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