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Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation. | LitMetric
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Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation.

Sara O Vaz Catarina Dâmaso Lu Liu Linda Ozoemena Luisa Mota-Vieira

Eur J Dermatol

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Ponta Delgada, São Miguel Island, Azores, Portugal, BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Lisboa, Portugal, Instituto Gulbenkian de Ciência, Oeiras, Portugal.

Published: June 2018

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 Source
http://dx.doi.org/10.1684/ejd.2018.3279DOI Listing

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