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Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

Detalles Bibliográficos
Autores principales:	HIGGINS, Rebecca, JENSEN, Annika N., WACHSTEIN, Julian, BRUCKNER-TUDERMAN, Leena, SPIEGEL, Roland, TRABER, Hubert, ACHERMANN, Josef, SCHALLER, Martin, FEHRENBACHER, Birgit, RÖCKEN, Martin, IGNATOVA, Desislava, CHANG, Yun-Tsan, FISCHER, Tina, SCHWIEGER-BRIEL, Agnes E., FRENCH, Lars E., HOETZENECKER, Wolfram, HORNUNG, René, MALZACHER, Andreas, COZZIO, Antonio, NAVARINI, Alexander, HAS, Christina, GUENOVA, Emmanuella
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Society for Publication of Acta Dermato-Venereologica 2020
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128983/ https://www.ncbi.nlm.nih.gov/pubmed/31502654 http://dx.doi.org/10.2340/00015555-3313

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