Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to prov...

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Autori principali: Dequeker, Els, Stuhrmann, Manfred, Morris, Michael A, Casals, Teresa, Castellani, Carlo, Claustres, Mireille, Cuppens, Harry, des Georges, Marie, Ferec, Claude, Macek, Milan, Pignatti, Pier-Franco, Scheffer, Hans, Schwartz, Marianne, Witt, Michal, Schwarz, Martin, Girodon, Emmanuelle
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2985951/
https://ncbi.nlm.nih.gov/pubmed/18685558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.136
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