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Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8076645/ https://www.ncbi.nlm.nih.gov/pubmed/33937469 http://dx.doi.org/10.1016/j.jdcr.2021.03.016 |
| _version_ | 1783684724319846400 |
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| author | Ellis, Carter Eason, Chelsea Snyder, Alan Siegel, Mark Pai, Gurpur Shashidhar Ryan, Erin Pfendner, Ellen G. Lee, Lara Wine |
| author_facet | Ellis, Carter Eason, Chelsea Snyder, Alan Siegel, Mark Pai, Gurpur Shashidhar Ryan, Erin Pfendner, Ellen G. Lee, Lara Wine |
| author_sort | Ellis, Carter |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-8076645 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-80766452021-04-29 Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy Ellis, Carter Eason, Chelsea Snyder, Alan Siegel, Mark Pai, Gurpur Shashidhar Ryan, Erin Pfendner, Ellen G. Lee, Lara Wine JAAD Case Rep Case Report Elsevier 2021-03-20 /pmc/articles/PMC8076645/ /pubmed/33937469 http://dx.doi.org/10.1016/j.jdcr.2021.03.016 Text en © 2021 by the American Academy of Dermatology, Inc. Published by Elsevier, Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Case Report Ellis, Carter Eason, Chelsea Snyder, Alan Siegel, Mark Pai, Gurpur Shashidhar Ryan, Erin Pfendner, Ellen G. Lee, Lara Wine Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy |
| title | Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy |
| title_full | Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy |
| title_fullStr | Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy |
| title_full_unstemmed | Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy |
| title_short | Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy |
| title_sort | novel missense p.r252l mutation of itgb4 compounded with known 3793+1g>a mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8076645/ https://www.ncbi.nlm.nih.gov/pubmed/33937469 http://dx.doi.org/10.1016/j.jdcr.2021.03.016 |
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