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Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis

Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2316975508

Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis

About this item

Full title

Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Human genetics, 2019-12, Vol.138 (11-12), p.1267-1274

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare severe cutaneous adverse reactions to drugs. Granulysin (GNLY) plays a key role in keratinocyte apoptosis during SJS/TEN pathophysiology. To determine if GNLY-encoding mutations might be related to the protein’s functional disturbances, contributing to SJS/TEN pathogenesis...

Alternative Titles

Full title

Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2316975508

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2316975508

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-019-02066-w

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