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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
16
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pubmed:dateCreated |
2001-10-4
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pubmed:abstractText |
The Ehlers-Danlos syndrome is a heritable connective-tissue disorder caused by defects in fibrillar-collagen metabolism. Mutations in the type V collagen genes account for up to 50 percent of cases of classic Ehlers-Danlos syndrome, but many other cases are unexplained. We investigated whether the deficiency of the tenascins, extracellular-matrix proteins that are highly expressed in connective tissues, was associated with the Ehlers-Danlos syndrome.
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pubmed:grant |
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pubmed:commentsCorrections |
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0028-4793
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
18
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pubmed:volume |
345
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1167-75
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:11642233-Arthritis, Rheumatoid,
pubmed-meshheading:11642233-DNA Mutational Analysis,
pubmed-meshheading:11642233-Ehlers-Danlos Syndrome,
pubmed-meshheading:11642233-Female,
pubmed-meshheading:11642233-Gene Deletion,
pubmed-meshheading:11642233-Genes, Recessive,
pubmed-meshheading:11642233-Humans,
pubmed-meshheading:11642233-Male,
pubmed-meshheading:11642233-Pedigree,
pubmed-meshheading:11642233-Point Mutation,
pubmed-meshheading:11642233-Psoriasis,
pubmed-meshheading:11642233-Reference Values,
pubmed-meshheading:11642233-Skin,
pubmed-meshheading:11642233-Tenascin
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pubmed:year |
2001
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pubmed:articleTitle |
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
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pubmed:affiliation |
Department of Dermatology, University Medical Center Nijmegen, The Netherlands. j.schalkwijk@derma.azn.nl
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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