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.

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
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
Descripción
Sumario: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.

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