Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.
Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Tareen AS, Wolf S, Panezai MA, Thiele H, Wali A, Fölster-Holst R, Basit S, Ayub M, Betz RC.
Uddin SA, et al. Among authors: panezai ma.
Acta Derm Venereol. 2020 Sep 30;100(16):adv00275. doi: 10.2340/00015555-3634.
Acta Derm Venereol. 2020.
PMID: 32926178
Free PMC article.