Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF02272841.pdf
Reference19 articles.
1. Amor M, Parker KL, Globerman H, New MI, White PC (1988) Mutation in the CYP21B gene (Ile-172 → Asn) causes steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 85:1600–1604
2. Chiou S-H, Hu M-C, Chung B-C (1990) A missense mutation at Ile 172 → Asn or Arg356 → trp causes steroid 21-hydroxylase deficiency. J Biol Chem 265:3549–3552
3. Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T (1989) Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes. EMBO J 8:1393–1402
4. Globerman H, Amor M, Parker KL, New MI, White PC (1988) Nonsense mutation causing steroid 21-hydroxylase deficiency. J Clin Invest 82:139–144
5. Haglund-Stengler B, Ritzén EM, Gustafsson J, Luthman H (1991) Haplotypes of the 21-hydroxylase gene region encoding mild 21-hydroxylase deficiency. Proc Natl Acad Sci USA 88:8352–8356
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