Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
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| Description | scientific article |
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author: Gerard Tromp |
| Publication date | September 1, 1992 |
| Language | English |
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