Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype (Q35881857)
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scientific article published in April 1996
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype |
scientific article published in April 1996 |
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Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype (English)
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A M Christiano
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I Anton-Lamprecht
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S Amano
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U Ebschner
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R E Burgeson
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J Uitto
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1 April 1996
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682-693
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