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2003 1
2006 2
2022 0
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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. 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
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.
Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM, Sippell WG, Riepe FG. Krone N, et al. Among authors: grischuk y. J Clin Endocrinol Metab. 2006 Jul;91(7):2682-8. doi: 10.1210/jc.2006-0209. Epub 2006 May 2. J Clin Endocrinol Metab. 2006. PMID: 16670167