Results 191 to 198 of about 2,980 (198)

[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].

Zhonghua yi xue za zhi, 2020
Objective: To analyze the copy number variation of CYP21A2 gene in 21-hydroxylase deficiency (21-OHD) patients, and identify the three copy repetition, single copy deletion of CYP21A2 gene and the type and proportion of CYP21A1P/CYP21A2 fused gene in 21-OHD patients.
Y J, Gao, B Q, Yu, L, Lu, X Y, Wu, J F, Mao, X, Wang, A L, Tong, S, Chen, M, Nie   +8 more
openaire   +1 more source

Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia

Clinica Chimica Acta, 2013
More than 90% of congenital adrenal hyperplasia cases are caused by mutation of the CYP21A2 gene which converted from the CYP21A1P pseudogene. Sizes of the 3.7-kb TaqI-produced fragment that exists downstream of the TNXB gene, representing the CYP21A2, and the 3.2-kb TaqI-produced fragment that exists downstream of the XA gene, representing the ...
openaire   +2 more sources

Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.

Cellular and molecular biology (Noisy-le-Grand, France), 2016
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive enzymatic disorder involving the synthesis of adrenal corticosteroids. 21-Hydroxylase deficiency (21-OHD) is the most common form of the disease which is observed in more than 90% of patients with CAH.
K, Forouzanfar, M, Seifi, F, Hashemi-Gorji, N, Karimi, M A, Estiar, M, Karimoei, E, Sakhinia, M, Karimipour, R, Ghergherehchi   +8 more
openaire   +1 more source

Gene symbol: CYP21A2.

Human genetics, 2007
Veronique T V, Tardy, Yves, Morel
openaire   +7 more sources

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.

Human genetics, 2010
Ettore, Capoluongo, Paola, Concolino, Francesca, Vendittelli, Cecilia, Zuppi   +3 more
openaire   +1 more source

Gene symbol: CYP21A2. Disease: adrenal hyperplasia, CYP21.

Human genetics, 2007
L, Dain, C, Minutolo, N, Buzzalino, S, Belli, A, Oneto, E, Charreau, L, Alba   +6 more
openaire   +1 more source

YETERSİZ VİRİLİZE BİR ERKEKTE CYP17A1 VE CYP21A2 HOMOZİGOT MUTASYON BİRLİKTELİĞİ

2022
Kurtoğlu, Selim, Gül Şiraz, Ülkü, Gök, Ebru, Sarıkaya, Emre, Çiçek, Dilek, Kara, Leyla, Berber, Uğur, Hatipoğlu, Nihal, Kendirci, Mustafa   +8 more
openaire   +1 more source

Gene symbol: CYP21A2. Disease: steroid 21-hydroxylase deficiency.

Human genetics, 2007
openaire   +1 more source