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Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grötzinger J, Peter M, Sippell WG. Krone N, et al. Among authors: grotzinger j. J Clin Endocrinol Metab. 2005 Jun;90(6):3724-30. doi: 10.1210/jc.2005-0089. Epub 2005 Mar 8. J Clin Endocrinol Metab. 2005. PMID: 15755848
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: grotzinger j. 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
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: grotzinger j. 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 and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
Riepe FG, Hiort O, Grötzinger J, Sippell WG, Krone N, Holterhus PM. Riepe FG, et al. Among authors: grotzinger j. J Clin Endocrinol Metab. 2008 Jul;93(7):2891-5. doi: 10.1210/jc.2007-2646. Epub 2008 Apr 29. J Clin Endocrinol Metab. 2008. PMID: 18445671
318 results