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

Abstract:

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 cryptic donor splice site within this exon; the combination of both defects restores the phase and replaces the last 11 Gly-X-Y repeats of exon 73 by a noncollagenous sequence, Glu-Ser-Leu. The sec...

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Publication status:
Published

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Publisher copy:
10.1086/302029

Authors


Sakuntabhai, A More by this author
Hammami-Hauasli, N More by this author
Bodemer, C More by this author
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Journal:
American journal of human genetics
Volume:
63
Issue:
3
Pages:
737-748
Publication date:
1998-09-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:fc4f7b78-2842-4701-b6e8-b20eca569434
Source identifiers:
13435
Local pid:
pubs:13435

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