@article{350c6e20dd87457faf78e14e252b9ff9,
title = "ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS",
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.",
author = "Shapiro, \{Larry J.\} and Buxman, \{Melodie M.\} and Roberta Weiss and Jaclyn Vidgoff and Dimond, \{Robert L.\} and Roller, \{James A.\} and Wells, \{R. S.\}",
note = "Funding Information: We thank Dr R. Gorlin, Dr G. Romeo, Dr P. MacLeod, and Dr C. R. Scott for providing samples from their patients and C. Hepburn and T. G. Wilson for technical assistance. This work was supported in part by grants no. 1-639 from the National Foundation-March of Dimes and HD 12178 from the National Institute of Child Health and Human Development. Requests for reprints should be addressed to L.J.S., Division of Medical Genetics, Harbor General Hospital, 1000 West Carson Street, Torrance, California 90509, U.S.A.",
year = "1978",
month = oct,
day = "7",
doi = "10.1016/S0140-6736(78)92646-6",
language = "English",
volume = "312",
pages = "756--757",
journal = "The Lancet",
issn = "0140-6736",
number = "8093",
}