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Phenotypic Overlap between Familial Aneurysms and Ehlers-Danlos Syndrome Type IV Resulting from a Type III Procollagen Gene Mutation

✍ Scribed by DAVID W. ANDERSON; SMITA THAKKER-VARIA; CATHERINE A. STOLLE


Book ID
119873289
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
590 KB
Volume
800
Category
Article
ISSN
0890-6564

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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 37Β°C demonstrated th