{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:06:05Z","timestamp":1792152365716,"version":"4.4.0"},"reference-count":33,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,7]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.28.7.458","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"458-463","source":"Crossref","is-referenced-by-count":26,"title":["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."],"prefix":"10.1136","volume":"28","author":[{"given":"A J","family":"Richards","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J C","family":"Lloyd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P N","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Narcisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F M","family":"Pope","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1991,7,1]]},"reference":[{"key":"ref_1","article-title":"The Ehlers-Danlos syndrome","author":"Beighton, P.","year":"1970","unstructured":"Beighton P. The Ehlers-Danlos syndrome. London: Heinemann Medical Books, 1970."},{"key":"ref_2","first-page":"292","article-title":"Heritable disorders of connective tissue","author":"McKusick, V.A.","year":"1972","unstructured":"McKusick VA. Heritable disorders of connective tissue. 4th ed. St Louis: Mosby, 1972:292-371.","edition":"4th ed"},{"key":"ref_3","first-page":"1314","article-title":"Patients with Ehlers-Danlos syndrome type IV lack","volume-title":"type III collagen. Proc Natl Acad Sci USA","volume":"72","author":"Pope, F.M.; Martin, G.R.; Lichtenstein, JR","year":"1975","unstructured":"Pope FM, Martin GR, Lichtenstein JR, et al. Patients with Ehlers-Danlos syndrome type IV lack type III collagen. 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Mosaicism for a deletion in one of the type III collagen alleles indicates that the deletion occurred after identification of cells for recruitment in different cell lineages early in human development. Abstract 0809. Am J Hum Genet 1989;45(suppl):206A. 11 Kuivaniemi H, Kontusaari S, Tromp G, Shao M, Sabol C, Prockop DJ. Identical G+' to A mutations in three different introns of the type III procoliagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. An explanation for exon skipping with some mutations and not others. J Bwil Chem 1990;265: 12067-74.","journal-title":"Am J Hum Genet; Identical G+' to A mutations in three different introns of the type III procoliagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. 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J Biol Chem"},{"key":"ref_12","first-page":"1349","article-title":"A single base mutation that substitutes serine for glycine 790 of the (tl (III) chain of type III procoliagen exposes an arginine and causes Ehlers-Danlos syndrome type","volume":"264","author":"Tromp, G.; Kuivaniemi, H.; Shikata, H.; Prockop, D.J.","year":"1989","unstructured":"Tromp G, Kuivaniemi H, Shikata H, Prockop DJ. A single base mutation that substitutes serine for glycine 790 of the (tl (III) chain of type III procoliagen exposes an arginine and causes Ehlers-Danlos syndrome type IV. J Bwil Chem 1989;264: 1349-52.","journal-title":"IV. 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