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. 1987 Jul;84(13):4519–4523. doi: 10.1073/pnas.84.13.4519

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

A Ballabio, G Parenti, R Carrozzo, G Sebastio, G Andria, V Buckle, N Fraser, I Craig, M Rocchi, G Romeo, et al.
PMCID: PMC305121  PMID: 3474618

Abstract

We have isolated several cDNA clones from a lambda gt11 expression library by screening with antibodies prepared against the microsomal enzyme steroid sulfatase, which is deficient in classical X-chromosome-linked ichthyosis patients. One of these clones (p422) has been assigned by mapping with a somatic cell hybrid panel and by in situ hybridization to Xp22.3. Clone p422 therefore has a coincident localization with the previously identified locus for steroid sulfatase expression in the region of the X chromosome escaping from inactivation. Twelve steroid sulfatase-deficient patients, including eight cases of classical ichthyosis, were found to be deleted for genomic sequences detected by the clone.

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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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