Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants

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journal：JAMA Dermatology

Authors：Lucía Martínez-Santamaría; Rocío Maseda; María del Carmen de Arriba; Javier A. Membrilla; Alberto Iglesias Sigüenza; Javier Mascías; Marta García; Lucía Quintana; Isabel Esteban-Rodríguez; Carlos Pelayo Hernández-Fernández; Nuria Illera; Blanca Duarte; Sara Guerrero-Aspizúa; David T. Woodley; Marcela del Río; Raúl de Lucas; Fernando Larcher; María José Escámez

Published date：2022-4-1

DOI：10.1001/jamadermatol.2022.0112

PDF link：https://jamanetwork.com/journals ... 649281927.81831.pdf

Article link：https://doi.org/10.1001/jamadermatol.2022.0112

Article Source：American Medical Association (AMA)。

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[JAMA] Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants

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[JAMA] Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants Copy