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. 1991 Jul;28(7):458–463. doi: 10.1136/jmg.28.7.458

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.

A J Richards 1, J C Lloyd 1, P N Ward 1, A De Paepe 1, P Narcisi 1, F M Pope 1
PMCID: PMC1016955  PMID: 1895316

Abstract

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 cleavage technique. Sequence analysis of cDNA showed a G to T mutation resulting in the substitution of glycine 910 by valine. This was confirmed by allele specific oligonucleotide hybridisation to the proband's genomic DNA.

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Selected References

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