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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Epstein, E. H. Morley, B. J. Kan, Y. W. Bonifas, J. M. Oakey, R. E. |
| Description | Author Affiliation: Bonifas JM ( Department of Dermatology, University of California, San Francisco.); |
| Abstract | A human steroid sulfatase (steryl-sulfatase; steryl-sulfate sulfohydrolase, EC 3.1.6.2) cDNA 2.4 kilobases long was isolated from a human placental lambda gt11 cDNA expression library. The library was screened with monospecific rabbit antibodies elicited by injection of steroid sulfatase protein purified from human placentas. Hybridization of the cDNA with EcoRI-digested genomic DNA indicated that patients from 14 of 15 apparently unrelated families have gross deletions of the gene for steroid sulfatase. One patient had genomic DNA fragments that were identical to those from normal individuals, indicating the absence of any major deletions as the cause of his lack of steroid sulfatase enzyme activity. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 24 |
| Volume Number | 84 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 1987-01-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Ichthyosis Genetics Sulfatases X Chromosome Chromosome Deletion Cloning, Molecular DNA Genes RNA, Messenger Steryl-Sulfatase Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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