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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1992-7-31
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pubmed:abstractText |
The clinical and biochemical observations in a patient with a mild form of Ehlers-Danlos syndrome (EDS) type IV are described. The patient's skin fibroblasts produced markedly diminished amounts of type III collagen. SDS-polyacrylamide gel electrophoresis of collagens produced by cells obtained from other, non-cutaneous tissues showed two forms of collagen alpha 1(III) chains, a normal and a slow migrating, mutant form. Further analysis confirmed that the type III collagen molecules containing mutant alpha chains which were overmodified had a lower thermal stability and were poorly secreted into the extracellular medium. The protein defect was mapped by in situ cyanogen bromide digestion and was located in alpha 1(III) CB9, the C-terminal peptide of the collagen triple helix. This study shows that non-cutaneous connective tissues can be a useful source for the study of type III collagen defects in patients with EDS type IV.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-1055406,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-1175627,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-1895316,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-1998337,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-2145268,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-2238087,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-2243125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-2492273,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-2808425,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-2834369,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-2875936,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-2981879,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-3076851,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-3162228,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-3178263,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-3277658,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-3337712,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-3546738,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-4022126,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-437782,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-5432063,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-6146097,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-6259441,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-7015914,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619632-793589
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
29
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
375-80
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:1619632-Cells, Cultured,
pubmed-meshheading:1619632-Collagen,
pubmed-meshheading:1619632-Connective Tissue,
pubmed-meshheading:1619632-Cyanogen Bromide,
pubmed-meshheading:1619632-Ehlers-Danlos Syndrome,
pubmed-meshheading:1619632-Female,
pubmed-meshheading:1619632-Fibroblasts,
pubmed-meshheading:1619632-Hot Temperature,
pubmed-meshheading:1619632-Humans,
pubmed-meshheading:1619632-Middle Aged,
pubmed-meshheading:1619632-Mutation,
pubmed-meshheading:1619632-Peptide Mapping,
pubmed-meshheading:1619632-Precipitin Tests,
pubmed-meshheading:1619632-Procollagen,
pubmed-meshheading:1619632-RNA, Messenger
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pubmed:year |
1992
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pubmed:articleTitle |
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.
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pubmed:affiliation |
Centre for Medical Genetics, University of Gent, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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