Shamsudheen Karuthedath Vellarikkal Rijith Jayarajan Ankit Verma Sreelata Nair Rowmika Ravi Vigneshwar Senthivel Sridhar Sivasubbu Vinod Scaria
10.12688/f1000research.8380.2
F1000Res
2016 May 17;5:900.
collagen vii mutation dystrophic epidermolysis bullosa simplex whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/27408687/
PMC4926754
27408687
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
2016