Additional file 1: Figure S1. of Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy
Published in 2016 by
Lilli Winter,
Matthias Türk,
Patrick Harter,
Michel Mittelbronn,
Cornelia Kornblum,
Fiona Norwood,
Heinz Jungbluth,
Christian Thiel,
Ursula Schlötzer-Schrehardt,
Rolf Schröder
Abstract
Sanger confirmation of the identified PLEC mutations in patient 1. Plectin mutation analyses using genomic DNA derived from patient 1 and his parents compared to a healthy control individual presenting the maternally inherited non-frameshift deletion c.2264_2266delTCT and the paternally inherited frameshift deletion c.3119_3120delAA. (TIF 1670 kb)