ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS

Larry J. Shapiro, Melodie M. Buxman, Roberta Weiss, Jaclyn Vidgoff, Robert L. Dimond, James A. Roller, R. S. Wells

    Research output: Contribution to journalArticlepeer-review

    121 Scopus citations

    Abstract

    Steroid sulphatase activity was determined in cultured fibroblasts from 25 individuals with X-linked ichthyosis from four countries. All those with X-linked disease had markedly reduced enzyme levels compared with controls and patients with other types of ichthyosis. X-linked ichthyosis seems to be the result of a common mutation affecting the expression of steroid-sulphatase activity.

    Original languageEnglish
    Pages (from-to)756-757
    Number of pages2
    JournalThe Lancet
    Volume312
    Issue number8093
    DOIs
    StatePublished - Oct 7 1978

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