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
Gespeichert in:
| Hauptverfasser: | , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
1996
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| In: |
American journal of human genetics
Year: 1996, Jahrgang: 58, Heft: 4, Pages: 682-693 |
| ISSN: | 0002-9297 |
| Online-Zugang: |
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| Verfasserangaben: | A.M. Christiano, I. Anton-Lamprecht, S. Amano, U. Ebschner, R.E. Burgeson, J. Uitto |
MARC
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| 245 | 1 | 0 | |a Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa |b a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype |c A.M. Christiano, I. Anton-Lamprecht, S. Amano, U. Ebschner, R.E. Burgeson, J. Uitto |
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