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Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 2; referees: 2 approved, 1 approved with reservations]

Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, sc...

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Autori principali: Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Sreelata Nair, Rowmika Ravi, Vigneshwar Senthivel, Sridhar Sivasubbu, Vinod Scaria
Natura: Artigo
Lingua:Inglês
Pubblicazione: F1000 Research Ltd 2016-07-01
Serie:F1000Research
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Accesso online:http://f1000research.com/articles/5-900/v2
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