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• W2024854300 startingPage "153" @default.
• W2024854300 abstract "Steroid sulphatase deficiency which started out as a curious placental microsomal enzyme deficiency associated with low maternal urinary oestrogen excretion and difficulties in delivery, first described only twelve years ago, has now become a generalized enzyme deficiency associated also with a common skin disease. It turns out not only to be inherited in an X-linked recessive manner, but to be part of a gene cluster which includes the Xg blood group gene and which has been precisely assigned to the distal tip of the short arm of the X-chromosome. This cluster is unique for genes on the X-chromosome in escaping X-inactivation. It remains to be unequivocally demonstrated whether steroid sulphatase is identical to arylsulphatase C or whether these are two enzymes sharing a common polypeptide chain determined by a single gene. However, Rose (1982) presents evidence that one steroid sulphatase is probably identical with arylsulphatase C. It also remains to be conclusively demonstrated whether the gene for the enzyme deficiency is also that for ichthyosis or whether they are two very closely linked genes. If the former is true the role of steroid sulphatase in the abnormal keratinization of ichthyosis is still to be elucidated. Above all the special nature of the DNA in this unique region awaits description." @default.
• W2024854300 created "2016-06-24" @default.
• W2024854300 creator A5047703173 @default.
• W2024854300 date "1982-09-01" @default.
• W2024854300 modified "2023-09-25" @default.
• W2024854300 title "Review: Genetics of steroid sulphatase deficiency and X‐linked ichthyosis" @default.
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• W2024854300 doi "https://doi.org/10.1007/bf01800171" @default.
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