Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa.

Karuthedath Vellarikkal, Shamsudheen

Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa. [electronic resource] - F1000Research 2016 - 900 p. digital

Publication Type: Journal Article

2046-1402

10.12688/f1000research.8380.1 doi