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Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
Grischuk Y, Rubtsov P, Riepe FG, Grötzinger J, Beljelarskaia S, Prassolov V, Kalintchenko N, Semitcheva T, Peterkova V, Tiulpakov A, Sippell WG, Krone N. Grischuk Y, et al. Among authors: semitcheva t. J Clin Endocrinol Metab. 2006 Dec;91(12):4976-80. doi: 10.1210/jc.2006-0777. Epub 2006 Sep 19. J Clin Endocrinol Metab. 2006. PMID: 16984992
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.
Lundberg Giwercman Y, Nikoshkov A, Lindsten K, Byström B, Pousette A, Chibalin AV, Arvidsson S, Tiulpakov A, Semitcheva TV, Peterkova V, Hagenfeldt K, Ritzén EM, Wedell A. Lundberg Giwercman Y, et al. Among authors: semitcheva tv. Hum Genet. 1998 Oct;103(4):529-31. doi: 10.1007/s004390050864. Hum Genet. 1998. PMID: 9856504