Partial lyonisation of steroid sulphatase gene in single hair roots

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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Beschreibung
Zusammenfassung: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 (
ISSN:0141-8955
1573-2665
DOI:10.1007/BF01799452