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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Fondazione Ferrata Storti
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252951/ https://www.ncbi.nlm.nih.gov/pubmed/33596641 http://dx.doi.org/10.3324/haematol.2020.272450 |
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| author | Ducamp, Sarah Luscieti, Sara Ferrer-Cortès, Xènia Nicolas, Gaël Manceau, Hana Peoc’h, Katell Yien, Yvette Y. Kannengiesser, Caroline Gouya, Laurent Puy, Herve Sanchez, Mayka |
| author_facet | Ducamp, Sarah Luscieti, Sara Ferrer-Cortès, Xènia Nicolas, Gaël Manceau, Hana Peoc’h, Katell Yien, Yvette Y. Kannengiesser, Caroline Gouya, Laurent Puy, Herve Sanchez, Mayka |
| author_sort | Ducamp, Sarah |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-8252951 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Fondazione Ferrata Storti |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-82529512021-07-14 A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria Ducamp, Sarah Luscieti, Sara Ferrer-Cortès, Xènia Nicolas, Gaël Manceau, Hana Peoc’h, Katell Yien, Yvette Y. Kannengiesser, Caroline Gouya, Laurent Puy, Herve Sanchez, Mayka Haematologica Case Reports Fondazione Ferrata Storti 2021-02-18 /pmc/articles/PMC8252951/ /pubmed/33596641 http://dx.doi.org/10.3324/haematol.2020.272450 Text en Copyright© 2021 Ferrata Storti Foundation https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
| spellingShingle | Case Reports Ducamp, Sarah Luscieti, Sara Ferrer-Cortès, Xènia Nicolas, Gaël Manceau, Hana Peoc’h, Katell Yien, Yvette Y. Kannengiesser, Caroline Gouya, Laurent Puy, Herve Sanchez, Mayka A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria |
| title | A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria |
| title_full | A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria |
| title_fullStr | A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria |
| title_full_unstemmed | A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria |
| title_short | A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria |
| title_sort | mutation in the iron-responsive element of alas2 is a modifier of disease severity in a patient suffering from clpx associated erythropoietic protoporphyria |
| topic | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252951/ https://www.ncbi.nlm.nih.gov/pubmed/33596641 http://dx.doi.org/10.3324/haematol.2020.272450 |
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