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Literature DB >> 3474618

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.

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.

Entities: Disease Species

Mesh：

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Year: 1987 PMID： 3474618 PMCID： PMC305121 DOI： 10.1073/pnas.84.13.4519

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

24 in total

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32 in total

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Journal: Hum Genet Date: 1990-04 Impact factor: 4.132

4. Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.

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5. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

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Journal: Am J Hum Genet Date: 1989-11 Impact factor: 11.025