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Article

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

European journal of dermatology : EJD - 1 Jun 2018

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

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Share to Autoantigens
Share to Codon, Nonsense
Share to Collagen Type XVII
Share to Epidermolysis Bullosa, Junctional

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Non-Fibrillar Collagens

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Identifiers

PMID: 29952287
DOI: 10.1684/ejd.2018.3279

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Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation.PMID 29952287Read ↗

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