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Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population

✍ Scribed by J Cañueto; S Ciria; A Hernández-Martín; P Unamuno; R González-Sarmiento

Book ID
111098226
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
184 KB
Volume
24
Category
Article
ISSN
0926-9959

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X-linked ichthyosis in Mexico: High frequency of deletions in the steroid sulfatase encoding gene
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The present study analyzes the frequency of molecular deletions in the steroid sulfatase (STS) encoding gene in a sample of 50 Mexican subjects with biochemical diagnosis of X-linked ichthyosis (XLI). To establish the correct diagnosis, STS activity was determined in leukocytes using 7-3 H-dehydroep

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We have studied 16 men, from 10 unrelated Italian families, affected by steroid suphatase (STS) deficiency, which is the basic defect of X-linked ichthyosis (XLI). The patients' clinical diagnoses were of either isolated ichthyosis or ichthyosis associated with Kallmann syndrome (KS) (hypogonadotrop