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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

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Bibliographic Details
Main Authors: Christiano, Angela M. (Author) , Anton-Lamprecht, Ingrun (Author) , Amano, S. (Author) , Ebschner, Ulrike (Author) , Burgeson, R. E. (Author) , Uitto, J. (Author)
Format: Article (Journal)
Language:English
Published: 1996
In: American journal of human genetics
Year: 1996, Volume: 58, Issue: 4, Pages: 682-693
ISSN:0002-9297
Online Access: Get full text
Author Notes:A.M. Christiano, I. Anton-Lamprecht, S. Amano, U. Ebschner, R.E. Burgeson, J. Uitto
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ISSN:0002-9297

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