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

Yulia Grischuk; Petr Rubtsov; Felix G Riepe; Joachim Grötzinger; Svetlana Beljelarskaia; Vladimir Prassolov; Natalya Kalintchenko; Tatyana Semitcheva; Valentina Peterkova; Anatoly Tiulpakov; Wolfgang G Sippell; Nils Krone

doi:10.1210/jc.2006-0777

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

Yulia Grischuk
, Petr Rubtsov
, Felix G Riepe
, Joachim Grötzinger
, Svetlana Beljelarskaia
, Vladimir Prassolov
, Natalya Kalintchenko
, Tatyana Semitcheva
, Valentina Peterkova
, Anatoly Tiulpakov
, Wolfgang G Sippell
, Nils Krone

Research output: Contribution to journal › Article › peer-review

26 Citations (Scopus)

Abstract

Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene.

Original language	English
Pages (from-to)	4976-80
Number of pages	5
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	91
Issue number	12
DOIs	https://doi.org/10.1210/jc.2006-0777
Publication status	Published - 2006

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Grischuk, Y., Rubtsov, P., Riepe, F. G., Grötzinger, J., Beljelarskaia, S., Prassolov, V., Kalintchenko, N., Semitcheva, T., Peterkova, V., Tiulpakov, A., Sippell, W. G., & Krone, N. (2006). 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. Journal of Clinical Endocrinology and Metabolism, 91(12), 4976-80. https://doi.org/10.1210/jc.2006-0777

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title = "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",

abstract = "Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene.",

author = "Yulia Grischuk and Petr Rubtsov and Riepe, \{Felix G\} and Joachim Gr{\"o}tzinger and Svetlana Beljelarskaia and Vladimir Prassolov and Natalya Kalintchenko and Tatyana Semitcheva and Valentina Peterkova and Anatoly Tiulpakov and Sippell, \{Wolfgang G\} and Nils Krone",

year = "2006",

doi = "10.1210/jc.2006-0777",

language = "English",

volume = "91",

pages = "4976--80",

journal = "Journal of Clinical Endocrinology and Metabolism",

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Grischuk, Y, Rubtsov, P, Riepe, FG, Grötzinger, J, Beljelarskaia, S, Prassolov, V, Kalintchenko, N, Semitcheva, T, Peterkova, V, Tiulpakov, A, Sippell, WG & Krone, N 2006, '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', Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 12, pp. 4976-80. https://doi.org/10.1210/jc.2006-0777

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, Yulia; Rubtsov, Petr; Riepe, Felix G et al.
In: Journal of Clinical Endocrinology and Metabolism, Vol. 91, No. 12, 2006, p. 4976-80.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia

T2 - identification, functional characterization, and structural analysis

AU - Grischuk, Yulia

AU - Rubtsov, Petr

AU - Riepe, Felix G

AU - Grötzinger, Joachim

AU - Beljelarskaia, Svetlana

AU - Prassolov, Vladimir

AU - Kalintchenko, Natalya

AU - Semitcheva, Tatyana

AU - Peterkova, Valentina

AU - Tiulpakov, Anatoly

AU - Sippell, Wolfgang G

AU - Krone, Nils

PY - 2006

Y1 - 2006

N2 - Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene.

AB - Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene.

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DO - 10.1210/jc.2006-0777

M3 - Article

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SN - 0021-972X

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JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

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Grischuk Y, Rubtsov P, Riepe FG, Grötzinger J, Beljelarskaia S, Prassolov V et al. 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. Journal of Clinical Endocrinology and Metabolism. 2006;91(12):4976-80. doi: 10.1210/jc.2006-0777