The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.

Previous studies have shown that Ehlers-Danlos syndrome type IV (EDS IV) is caused by mutations of type III collagen (COL3A1). Here we have characterised the most amino-terminal glycine substitution so far described in a patient with EDS IV. A combination of peptide mapping and chemical cleavage ana...

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Bibliographic Details
Main Authors: Richards, A, Narcisi, P, Lloyd, J, Ferguson, C, Pope, F M
Format: Artigo
Language:Inglês
Published: 1993
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016501/
https://ncbi.nlm.nih.gov/pubmed/8411057
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