Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.

We describe two familial cases of dominant dystrophic epidermolysis bullosa (DDEB) that are heterozygous for deletions in COL7A1 that alter splicing, despite intact consensus splice-site sequences. One patient shows a 28-bp genomic deletion (6081del28) in exon 73 associated with the activation of a...

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Bibliographic Details
Main Authors: Sakuntabhai, A, Hammami-Hauasli, N, Bodemer, C, Rochat, A, Prost, C, Barrandon, Y, de Prost, Y, Lathrop, M, Wojnarowska, F, Bruckner-Tuderman, L, Hovnanian, A
Format: Journal article
Language:English
Published: 1998

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