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Deletions within COL7A1 Exons Distant from Consensus Splice Sites Alter Splicing and Produce Shortened Polypeptides in Dominant Dystrophic Epidermolysis Bullosa

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Year: 1998
Type: article
Study design: Case Report
Source: The American Journal of Human Genetics
DOI: 10.1086/302029
Authors: Anavaj Sakuntabhai, Nadja Hammami-Hauasli, Christine Bodemer, Ariane Rochat, Catherine Prost, Yann Barrandon, Yves de Prost, Mark Lathrop, Fenella Wojnarowska, Leena Bruckner-Tuderman, Alain Hovnanian
Institutions: Centre for Human Genetics, University of Oxford, University of Münster, Hôpital Necker-Enfants Malades, École Normale Supérieure - PSL, Hôpital Saint-Louis, John Radcliffe Hospital
Language: English

Topic: Skin and Cellular Biology Research
Subfield: Cell Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: bronze

Funder: Wellcome Trust
OpenAlex ID: W2142053774
FWCI: 1.404
Cites: 74
Cited by: 46
Related to: 10
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