A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
一种新的PLEC无义纯合突变（c.7159G>T；p.Glu2387*）导致单纯性大疱性表皮松解症伴肌营养不良和弥漫性脱发：病例报告
期刊:BMC Dermatology
影响因子:
doi:10.1186/s12895-018-0069-x
Argyropoulou, Zoe; Liu, Lu; Ozoemena, Linda; Branco, Claudia C; Senra, Raquel; Reis-Rego, Ângela; Mota-Vieira, Luisa
