Partial lyonisation of steroid sulphatase gene in single hair roots

Steroid sulphatase (STS) activity was measured in single hair roots from 9 patients with X‐linked ichthyosis, 7 obligate heterozygotes, 12 male controls and 12 female controls. STS activity was deficient (

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 1986-06, Vol.9 (2), p.156-162
Hauptverfasser:	Willems, P. J., Bruijn, H. W. A., Groenhuis, A., Mooyaart, B. R., Berger, R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Errors of metabolism Female Hair - enzymology Heterozygote Humans Ichthyosis - enzymology Ichthyosis - genetics Male Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Steryl-Sulfatase Sulfatases - deficiency Sulfatases - genetics X Chromosome
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