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.

Abstract excerpt

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...

Topics

• Alleles
• Amino Acid Sequence
• Base Sequence
• Collagen
• DNA
• DNA Mutational Analysis
• Ehlers-Danlos Syndrome
• Female
• Glycine
• Humans
• Middle Aged