Analysis of steroid 21-hydroxylase gene mutations in the Spanish population
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00207379.pdf
Reference29 articles.
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2. Azziz R, Dewailly D, Owerbach D (1994) Clinical review 56: non-classical adrenal hyperplasia: current concepts. J Clin Endocrinol Metab 78:810?815
3. Carroll MC, Campbell RD, Porter RR (1985) Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. Proc Natl Acad Sci USA 82:521?525
4. Chiou SH, Hu MC, Chung BC (1990) A missence mutation at Ile-172-Asn or Arg-356-Trp causes steroid 21-hydroxylase deficiency. J Biol Chem 265:3549?3552
5. Globerman H, Amor M, Parker KL, New MI, White PC (1988) A nonsense mutation causing steroid 21-hydroxylase deficiency. J Clin Invest 82:139?144
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