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Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427666/ https://www.ncbi.nlm.nih.gov/pubmed/28534045 http://dx.doi.org/10.1212/NXG.0000000000000153 |
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| author | Kari, Elina Schrauwen, Isabelle Llaci, Lorida Fisher, Laurel M. Go, John L. Naymik, Marcus Knowles, James A. Huentelman, Matthew J. Friedman, Rick A. |
| author_facet | Kari, Elina Schrauwen, Isabelle Llaci, Lorida Fisher, Laurel M. Go, John L. Naymik, Marcus Knowles, James A. Huentelman, Matthew J. Friedman, Rick A. |
| author_sort | Kari, Elina |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-5427666 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Wolters Kluwer |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-54276662017-05-22 Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves Kari, Elina Schrauwen, Isabelle Llaci, Lorida Fisher, Laurel M. Go, John L. Naymik, Marcus Knowles, James A. Huentelman, Matthew J. Friedman, Rick A. Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2017-05-11 /pmc/articles/PMC5427666/ /pubmed/28534045 http://dx.doi.org/10.1212/NXG.0000000000000153 Text en Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| spellingShingle | Clinical/Scientific Notes Kari, Elina Schrauwen, Isabelle Llaci, Lorida Fisher, Laurel M. Go, John L. Naymik, Marcus Knowles, James A. Huentelman, Matthew J. Friedman, Rick A. Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves |
| title | Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves |
| title_full | Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves |
| title_fullStr | Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves |
| title_full_unstemmed | Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves |
| title_short | Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves |
| title_sort | compound heterozygous mutations in masp1 in a deaf child with absent cochlear nerves |
| topic | Clinical/Scientific Notes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427666/ https://www.ncbi.nlm.nih.gov/pubmed/28534045 http://dx.doi.org/10.1212/NXG.0000000000000153 |
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