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Article

Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants.

JAMA dermatology - 1 Apr 2022

Mosallaei Daniel, Hao Michelle, Antaya Richard J, Levian Brandon, Kwong Andrew, Cogan Jon, Hamilton Claire, Schwieger-Briel Agnes, Tan Calvin, Tang Xin, Woodley David T, Chen Mei

Abstract excerpt

IMPORTANCE: Junctional epidermolysis bullosa (JEB) is an incurable blistering skin disorder with high infant mortality often caused by nonsense variants in the genes that encode laminin 332. OBJECTIVE: To evaluate the safety and outcomes following intravenous gentamicin readthrough therapy and subsequent laminin 332 expression in patients with JEB. DESIGN, SETTING, AND PARTICIPANTS: This open-label, pilot...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35234826
DOI: 10.1001/jamadermatol.2021.5992
PMCID: PMC8892363

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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