Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.

@article{Speiser1988MolecularGA,
  title={Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.},
  author={Phyllis W. Speiser and Maria I. New and Perrin C White},
  journal={The New England journal of medicine},
  year={1988},
  volume={319 1},
  pages={19-23}
}
Nonclassic steroid 21-hydroxylase deficiency is a frequent, relatively mild disorder of cortisol biosynthesis, characterized by variable signs of postnatal androgen excess. It is inherited as an allelic variant of the gene designated CYP21B, which encodes 21-hydroxylase. CYP21B is located in the HLA histocompatibility complex, and a "nonclassic" allelic variant is often associated with characteristic HLA antigens--B14,DR1. We cloned and analyzed the CYP21B gene from a patient homozygous for HLA… CONTINUE READING

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