Browsing Centre for Endocrinology by Author "Hadzsiev, K"
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A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
Doleschall, M; Luczay, A; Koncz, K; Hadzsiev, K; Erhardt, É; Szilágyi, Á; Doleschall, Z; Németh, K; Török, D; Prohászka, Z (2017-06)There is a difficulty in the molecular diagnosis of congenital adrenal hyperplasia (CAH) due to the c.955C>T (p.(Q319*), formerly Q318X, rs7755898) variant of the CYP21A2 gene. Therefore, a systematic assessment of the ...