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The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible
In vitro functional tests aimed to investigate CFTR dysfunction appear critical to help elucidate the functional impact of new variants of uncertain clinical significance and solve inconclusive cases, especially in early deceased newborns.
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412805/ https://www.ncbi.nlm.nih.gov/pubmed/28469871 http://dx.doi.org/10.1002/ccr3.760 |
| _version_ | 1783233078368403456 |
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| author | Hinzpeter, Alexandre Reboul, Marie‐Pierre Callebaut, Isabelle Zordan, Cécile Costes, Bruno Guichoux, Julie Iron, Albert Lacombe, Didier Martin, Natacha Arveiler, Benoit Fanen, Pascale Fergelot, Patricia Girodon, Emmanuelle |
| author_facet | Hinzpeter, Alexandre Reboul, Marie‐Pierre Callebaut, Isabelle Zordan, Cécile Costes, Bruno Guichoux, Julie Iron, Albert Lacombe, Didier Martin, Natacha Arveiler, Benoit Fanen, Pascale Fergelot, Patricia Girodon, Emmanuelle |
| author_sort | Hinzpeter, Alexandre |
| collection | PubMed |
| description | In vitro functional tests aimed to investigate CFTR dysfunction appear critical to help elucidate the functional impact of new variants of uncertain clinical significance and solve inconclusive cases, especially in early deceased newborns. |
| format | Online Article Text |
| id | pubmed-5412805 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-54128052017-05-03 The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible Hinzpeter, Alexandre Reboul, Marie‐Pierre Callebaut, Isabelle Zordan, Cécile Costes, Bruno Guichoux, Julie Iron, Albert Lacombe, Didier Martin, Natacha Arveiler, Benoit Fanen, Pascale Fergelot, Patricia Girodon, Emmanuelle Clin Case Rep Case Reports In vitro functional tests aimed to investigate CFTR dysfunction appear critical to help elucidate the functional impact of new variants of uncertain clinical significance and solve inconclusive cases, especially in early deceased newborns. John Wiley and Sons Inc. 2017-03-30 /pmc/articles/PMC5412805/ /pubmed/28469871 http://dx.doi.org/10.1002/ccr3.760 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Case Reports Hinzpeter, Alexandre Reboul, Marie‐Pierre Callebaut, Isabelle Zordan, Cécile Costes, Bruno Guichoux, Julie Iron, Albert Lacombe, Didier Martin, Natacha Arveiler, Benoit Fanen, Pascale Fergelot, Patricia Girodon, Emmanuelle The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible |
| title | The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible |
| title_full | The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible |
| title_fullStr | The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible |
| title_full_unstemmed | The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible |
| title_short | The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible |
| title_sort | importance of functional tests to assess the effect of a new cftr variant when genotype–phenotype correlation is not possible |
| topic | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412805/ https://www.ncbi.nlm.nih.gov/pubmed/28469871 http://dx.doi.org/10.1002/ccr3.760 |
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