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Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening

BACKGROUND: Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan‐population panels. Israel is characterized by genetically heterogene...

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Detalles Bibliográficos
Autores principales: Behar, Doron M., Inbar, Ori, Shteinberg, Michal, Gur, Michal, Mussaffi, Huda, Shoseyov, David, Ashkenazi, Moshe, Alkrinawi, Soliman, Bormans, Concetta, Hakim, Fahed, Mei‐Zahav, Meir, Cohen‐Cymberknoh, Malena, Dagan, Adi, Prais, Dario, Sarouk, Ifat, Stafler, Patrick, Bar Aluma, Bat El, Akler, Gidon, Picard, Elie, Aviram, Micha, Efrati, Ori, Livnat, Galit, Rivlin, Joseph, Bentur, Lea, Blau, Hannah, Kerem, Eitan, Singer, Amihood
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441412/
https://www.ncbi.nlm.nih.gov/pubmed/28546993
http://dx.doi.org/10.1002/mgg3.278