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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

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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Bibliographische Detailangaben
Veröffentlicht in:F1000Res
Hauptverfasser: Karuthedath Vellarikkal, Shamsudheen, Jayarajan, Rijith, Verma, Ankit, Nair, Sreelata, Ravi, Rowmika, Senthivel, Vigneshwar, Sivasubbu, Sridhar, Scaria, Vinod
Format: Artigo
Sprache:Inglês
Veröffentlicht: F1000Research 2016
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4926754/
https://ncbi.nlm.nih.gov/pubmed/27408687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.8380.2
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