Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency-Reference-Cited by-同舟云学术

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Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency

Published:2005-07-19 Issue:6 Volume:117 Page:558-564
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Bojunga Jörg,Welsch Christoph,Antes Iris,Albrecht Mario,Lengauer Thomas,Zeuzem Stefan

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-005-1339-3.pdf

Reference34 articles.

1. Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25:3389–3402

2. Apweiler R, Bairoch A, Wu CH, Barker WC, Boeckmann B, Ferro S, Gasteiger E, Huang H, Lopez R, Magrane M, Martin MJ, Natale DA, O’Donovan C, Redaschi N, Yeh LS (2004) UniProt: the universal protein knowledgebase. Nucleic Acids Res 32:D115–D119

3. Belkina NV, Lisurek M, Ivanov AS, Bernhardt R (2001) Modelling of three-dimensional structures of cytochromes P450 11B1 and 11B2. J Inorg Biochem 87:197–207

4. Blanche H, Vexiau P, Clauin S, Le GI, Fiet J, Mornet E, Dausset J, Bellanne-Chantelot C (1997) Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. Hum Genet 101:56–60

5. Canutescu AA, Shelenkov AA, Dunbrack RL Jr (2003) A graph-theory algorithm for rapid protein side-chain prediction. Protein Sci 12:2001–2014

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1. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency;European Journal of Human Genetics;2020-07-02

2. CYP21A2mutation update: Comprehensive analysis of databases and published genetic variants;Human Mutation;2017-11-06

3. Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women;Human Reproduction Update;2017-06-05

4. Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations;Scientific Reports;2016-12

5. 17-Hydroxyprogesterone in children, adolescents and adults;Annals of Clinical Biochemistry: International Journal of Laboratory Medicine;2014-04-07

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