TY - JOUR T1 - 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. JF - Journal of Medical Genetics JO - J Med Genet SP - 458 LP - 463 DO - 10.1136/jmg.28.7.458 VL - 28 IS - 7 AU - A J Richards AU - J C Lloyd AU - P N Ward AU - A De Paepe AU - P Narcisi AU - F M Pope Y1 - 1991/07/01 UR - http://jmg.bmj.com/content/28/7/458.abstract N2 - 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. ER -