TY - JOUR AU - Patócs, Attila Balázs AU - Likó, István AU - Varga, Ibolya AU - Gergics, Péter AU - Boros, A AU - Futo, L AU - Kun, I AU - Bertalan, Rita AU - Toth, S AU - Pazmany, T AU - Tóth, Miklós AU - Szücs, Nikolette AU - Horányi, János AU - Gláz, Edit AU - Rácz, Károly TI - Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing JF - JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY J2 - J STEROID BIOCHEM MOL BIOL VL - 97 PY - 2005 IS - 3 SP - 257 EP - 265 PG - 9 SN - 0960-0760 DO - 10.1016/j.jsbmb.2005.06.035 UR - https://m2.mtmt.hu/api/publication/1102201 ID - 1102201 N1 - Autopszia alapján érvényesítve. 2nd Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkirályi 46, 1088 Budapest, Hungary Gedeon Richter Ltd., Gyomroi 19-21, 1103 Budapest, Hungary 1st Department of Internal Medicine, Ferenc Markhot Hospital, Eger, Hungary University of Medicine and Pharmacy, Endocrinology Clinic, Tg.Mures, Romania Csolnoky F County Hospital Veszprem, Hungary 1st Department of Surgery, Faculty of Medicine, Semmelweis University, Ülloi 78, 1082 Budapest, Hungary Cited By :22 Export Date: 30 July 2019 CODEN: JSBBE Correspondence Address: Racz, K.; 2nd Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkirályi 46, 1088 Budapest, Hungary; email: racz@bel2.sote.hu 2nd Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkirályi 46, 1088 Budapest, Hungary Gedeon Richter Ltd., Gyomroi 19-21, 1103 Budapest, Hungary 1st Department of Internal Medicine, Ferenc Markhot Hospital, Eger, Hungary University of Medicine and Pharmacy, Endocrinology Clinic, Tg.Mures, Romania Csolnoky F County Hospital Veszprem, Hungary 1st Department of Surgery, Faculty of Medicine, Semmelweis University, Ülloi 78, 1082 Budapest, Hungary Cited By :23 Export Date: 28 March 2021 CODEN: JSBBE Correspondence Address: Racz, K.; 2nd Department of Medicine, Szentkirályi 46, 1088 Budapest, Hungary; email: racz@bel2.sote.hu Molecular Sequence Numbers: GENBANK: M14564; Chemicals/CAS: arginine, 1119-34-2, 15595-35-4, 7004-12-8, 74-79-3; cysteine, 4371-52-2, 52-89-1, 52-90-4; cytochrome P450, 9035-51-2; glycine, 56-40-6, 6000-43-7, 6000-44-8; heme, 14875-96-8; hydrogen, 12385-13-6, 1333-74-0; steroid 17alpha monooxygenase, 189355-97-3, 9029-67-8, 9044-50-2, 331947-43-4, 9068-00-2 LA - English DB - MTMT ER - TY - JOUR AU - Patócs, Attila Balázs AU - Tóth, Miklós AU - Barta, Csaba AU - Sasvári-Székely, Mária AU - Varga, Ibolya AU - Szücs, Nikolette AU - Jakab, CS AU - Gláz, Edit AU - Rácz, Károly TI - Hormonal evaluation and mutation screening for steroid 21-hydrosylase deficiency in patients with unilateral and bilateral adrenal incidentalomas JF - EUROPEAN JOURNAL OF ENDOCRINOLOGY J2 - EUR J ENDOCRINOL VL - 147 PY - 2002 IS - 3 SP - 349 EP - 355 PG - 7 SN - 0804-4643 DO - 10.1530/eje.0.1470349 UR - https://m2.mtmt.hu/api/publication/155114 ID - 155114 LA - English DB - MTMT ER -