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 (Q67518281)
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scientific article published on 01 June 1992
Language | Label | Description | Also known as |
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English | 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 |
scientific article published on 01 June 1992 |
Statements
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 (English)
A. J. Richards
P. Narcisi
A. C. Nicholls
J. C. Lloyd
1 June 1992
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