|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0017262,
umls-concept:C0017337,
umls-concept:C0023516,
umls-concept:C0026882,
umls-concept:C0035696,
umls-concept:C0055530,
umls-concept:C0238052,
umls-concept:C1171362,
umls-concept:C1274040,
umls-concept:C1413864,
umls-concept:C1515670,
umls-concept:C1556094,
umls-concept:C1706395
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
1999-11-19
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|
pubmed:abstractText |
A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). The expression of CYP27 has been mostly explored using cultured fibroblasts, prompting the examination of the transcripts from blood leucocytes as a simple and rapid technique.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
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pubmed:month |
Nov
|
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pubmed:issn |
0022-3050
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
67
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
|
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pubmed:pagination |
675-7
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pubmed:dateRevised |
2008-11-20
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pubmed:meshHeading |
pubmed-meshheading:10519880-Adult,
pubmed-meshheading:10519880-Amino Acid Sequence,
pubmed-meshheading:10519880-Cytochrome P-450 CYP27A1,
pubmed-meshheading:10519880-Cytochrome P-450 Enzyme System,
pubmed-meshheading:10519880-DNA, Complementary,
pubmed-meshheading:10519880-Exons,
pubmed-meshheading:10519880-Humans,
pubmed-meshheading:10519880-Japan,
pubmed-meshheading:10519880-Leukocytes,
pubmed-meshheading:10519880-Male,
pubmed-meshheading:10519880-Molecular Sequence Data,
pubmed-meshheading:10519880-Point Mutation,
pubmed-meshheading:10519880-RNA, Messenger,
pubmed-meshheading:10519880-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:10519880-Steroid Hydroxylases,
pubmed-meshheading:10519880-Xanthomatosis, Cerebrotendinous
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|
pubmed:year |
1999
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pubmed:articleTitle |
Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.
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pubmed:affiliation |
Department of Dynamic Pathology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports
|
