Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

We have studied a patient with Ehlers-Danlos syndrome type IV. Protein mapping studies of her type III collagen had indicated that cyanogen bromide fragment 9 contained the site of the mutation. Here we describe the mapping of this region for a single base mutation using a chemical modification and...

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Detalhes bibliográficos
Main Authors: Richards, A J, Lloyd, J C, Ward, P N, De Paepe, A, Narcisi, P, Pope, F M
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016955/
https://ncbi.nlm.nih.gov/pubmed/1895316
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