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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
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Society for Publication of Acta Dermato-Venereologica
2020
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| Materias: | |
| 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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| author | 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 |
| author_facet | 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 |
| author_sort | HIGGINS, Rebecca |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-9128983 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Society for Publication of Acta Dermato-Venereologica |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-91289832022-10-20 Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn 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 Acta Derm Venereol Short Communication Society for Publication of Acta Dermato-Venereologica 2020-01-30 /pmc/articles/PMC9128983/ /pubmed/31502654 http://dx.doi.org/10.2340/00015555-3313 Text en © 2020 Acta Dermato-Venereologica https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the CC BY-NC license |
| spellingShingle | Short Communication 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 Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn |
| title | Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn |
| title_full | Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn |
| title_fullStr | Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn |
| title_full_unstemmed | Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn |
| title_short | Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn |
| title_sort | uniparental disomy of chromosome 2 unmasks new itga6 recessive mutation and results in a lethal junctional epidermolysis bullosa in a newborn |
| topic | Short Communication |
| url | 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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