This is an update of previous best practice guidelines. Diagnostic flow charts now include testing in CFTR-related disorders. The need to consider ethnic origin is stressed. The classification of mutations is reviewed with regard to pathogenicity and genetic counselling
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommandations
Castellani C;PIGNATTI, Pierfranco;
2009-01-01
Abstract
This is an update of previous best practice guidelines. Diagnostic flow charts now include testing in CFTR-related disorders. The need to consider ethnic origin is stressed. The classification of mutations is reviewed with regard to pathogenicity and genetic counselling
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