학술논문
Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.
Document Type
journal article
Author
Martínez-Santamaría, Lucía; Maseda, Rocío; de Arriba, María del Carmen; Membrilla, Javier A.; Sigüenza, Alberto Iglesias; Mascías, Javier; García, Marta; Quintana, Lucía; Esteban-Rodríguez, Isabel; Hernández-Fernández, Carlos Pelayo; Illera, Nuria; Duarte, Blanca; Guerrero-Aspizúa, Sara; Woodley, David T.; del Río, Marcela; de Lucas, Raúl; Larcher, Fernando; Escámez, María José
Source
JAMA Dermatology; Apr2022, Vol. 158 Issue 4, p439-443, 5p
Subject
Language
ISSN
21686068