Functional studies of two novel and two rare mutations in the 21-hydroxylase gene-Reference-Cited by-同舟云学术

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Functional studies of two novel and two rare mutations in the 21-hydroxylase gene

Published:2006-03-16 Issue:6 Volume:84 Page:521-528
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Barbaro M.,Baldazzi L.,Balsamo A.,Lajic S.,Robins T.,Barp L.,Pirazzoli P.,Cacciari E.,Cicognani A.,Wedell A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00109-006-0043-7.pdf

Reference32 articles.

1. White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245–291

2. White PC, Grossberger D, Onufer BJ, Chaplin DD, New MI, Dupont B, Strominger JL (1985) Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci U S A 82:1089–1093

3. Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY (1999) Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations. J Biol Chem 274:12147–12156

4. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC (1992) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90:584–595

5. Wedell A, Chun X, Luthman H (1994) A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population. Hum Genet 93:204–206

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