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. 1986 Jun;23(3):204–209. doi: 10.1136/jmg.23.3.204

Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.

G Rumsby, M C Carroll, R R Porter, D B Grant, M Hjelm
PMCID: PMC1049628  PMID: 3487654

Abstract

DNA was analysed from 20 patients with congenital adrenal hyperplasia due to cytochrome P-450 steroid 21-hydroxylase deficiency. Using probes recognising sequences in both the 21-hydroxylase gene and the adjacent fourth component of complement (C4), one patient was found to have a homozygous deletion of DNA which encompassed the C4B and 21-hydroxylase B genes. Evidence is presented for this deletion arising by recombination between homologous regions of 21-hydroxylase A and B. Seven patients appeared to be heterozygous for the same deletion, but no detectable alteration in the 21-hydroxylase gene could be demonstrated in others.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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