|
rdf:type |
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|
lifeskim:mentions |
|
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pubmed:issue |
8093
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pubmed:dateCreated |
1978-12-2
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0140-6736
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:day |
7
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pubmed:volume |
2
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
756-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:80684-Adult,
pubmed-meshheading:80684-Cells, Cultured,
pubmed-meshheading:80684-Child,
pubmed-meshheading:80684-Cholesterol Esters,
pubmed-meshheading:80684-Female,
pubmed-meshheading:80684-Fibroblasts,
pubmed-meshheading:80684-Humans,
pubmed-meshheading:80684-Ichthyosis,
pubmed-meshheading:80684-Male,
pubmed-meshheading:80684-Metabolism, Inborn Errors,
pubmed-meshheading:80684-Mutation,
pubmed-meshheading:80684-Skin,
pubmed-meshheading:80684-Sulfatases,
pubmed-meshheading:80684-X Chromosome
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pubmed:year |
1978
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pubmed:articleTitle |
Enzymatic basis of typical X-linked icthyosis.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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