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Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.

A novel heterozygous mutation of the COL3A1 gene that encodes the alpha 1(III) chains of type III collagen was identified in a family with the acrogeric form of Ehlers-Danlos syndrome type IV (EDS-IV). Cultured dermal fibroblasts produced normal and shortened alpha 1(III) chains. The triple helix of...

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Hlavní autoři: Chiodo, A A, Sillence, D O, Cole, W G, Bateman, J F
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1136092/
https://ncbi.nlm.nih.gov/pubmed/7487954
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