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Single Base Mutation in the Type III Procollagen Gene That Converts the Codon for Glycine 883 to Aspartate in a Proband with Mild Symptoms of Ehlers-Danlos Syndrome IV

✍ Scribed by GERARD TROMP; HELENA KUIVANIEMI; CATHERINE STOLLE; F. MICHAEL POPE; DARWIN J. PROCKOP

Book ID: 119864245
Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 85 KB
Volume: 580
Category: Article
ISSN: 0890-6564
DOI: 10.1111/j.1749-6632.1990.tb17991.x

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## Communicated by k e r n Peltonen A single-base mutation in intron 37 of the gene for type 111 procollagen (COL3A1) was found in a proband with the type IV variant of Ehlers-Danlos syndrome. Probeeprotection experiments with S 1 nuclease and RNA from fibroblasts incubated at 37°C demonstrated th