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Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex w...

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex w...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_658a1999797249b9a32a5a0a6180cfda

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

About this item

Full title

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

Publisher

San Francisco, CA USA: Public Library of Science

Journal title

PloS one, 2023-10, Vol.18 (10), p.e0293218-e0293218

Language

English

Formats

Publication information

Publisher

San Francisco, CA USA: Public Library of Science

More information

Scope and Contents

Contents

The Lamc2.sup.jeb junctional epidermolysis bullosa (EB) mouse model has been used to demonstrate that significant genetic modification of EB symptoms is possible, identifying as modifiers Col17a1 and six other quantitative trait loci, several with strong candidate genes including dystonin (Dst/Bpag1). Here, CRISPR/Cas9 was used to alter exon 23 in...

Alternative Titles

Full title

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_658a1999797249b9a32a5a0a6180cfda

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_658a1999797249b9a32a5a0a6180cfda

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0293218

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