A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation
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| Description | scientific article published on 01 June 1992 |
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author: Philip N Ward |
| Publication date | June 1, 1992 |
| Language | English |
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