Figure 6

Detection of a heterozygote missense mutation (G514V) in the COL3A1 gene in a 47-year old female patient affected with Ehlers-Danlos syndrome type IV. A G to A substitution was found at nucleotide position 2042 starting from the initiation codon (ATG) of the COL3A1 gene. This nucleotide substitution alters the codon (GG T) for glycine to the codon (GTT) for valine at position 514 of the α-chain of collagen type III protein. Two electrophoregrams of the same patient are shown. (Figure courtesy of Prof. X. Jeunemaitre)