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Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies
| Autores principales: | , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519171/ http://dx.doi.org/10.1186/2046-2530-4-S1-P59 |
| _version_ | 1782383466471489536 |
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| author | Kessler, K Falk, N Wunderlich, I Fröhlich, M Hauer, N Gießl, A Brandstätter, JH Sticht, H Ekici, AB Uebe, S Seemanová, E Reis, A Roepman, R Thiel, C |
| author_facet | Kessler, K Falk, N Wunderlich, I Fröhlich, M Hauer, N Gießl, A Brandstätter, JH Sticht, H Ekici, AB Uebe, S Seemanová, E Reis, A Roepman, R Thiel, C |
| author_sort | Kessler, K |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-4519171 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-45191712015-08-03 Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies Kessler, K Falk, N Wunderlich, I Fröhlich, M Hauer, N Gießl, A Brandstätter, JH Sticht, H Ekici, AB Uebe, S Seemanová, E Reis, A Roepman, R Thiel, C Cilia Poster Presentation BioMed Central 2015-07-13 /pmc/articles/PMC4519171/ http://dx.doi.org/10.1186/2046-2530-4-S1-P59 Text en Copyright © 2015 Kessler et al. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| spellingShingle | Poster Presentation Kessler, K Falk, N Wunderlich, I Fröhlich, M Hauer, N Gießl, A Brandstätter, JH Sticht, H Ekici, AB Uebe, S Seemanová, E Reis, A Roepman, R Thiel, C Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies |
| title | Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies |
| title_full | Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies |
| title_fullStr | Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies |
| title_full_unstemmed | Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies |
| title_short | Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies |
| title_sort | identification of mutations in dync2li1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of jeune/atd ciliopathies |
| topic | Poster Presentation |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519171/ http://dx.doi.org/10.1186/2046-2530-4-S1-P59 |
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