Now showing items 1-2 of 2

    • Promiscuity among the MRAPs. 

      Clark, AJL; Chan, LF (2017-04)
      The melanocortin 2 receptor accessory protein (MRAP) was originally discovered to be an essential co-receptor for the ACTH receptor/melanocortin 2 receptor, and it physically interacts with this receptor and is required ...
    • 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 ...