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A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient

Cystic fibrosis is a life‐shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF‐causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation anal...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Clin Case Rep
Hauptverfasser: Soe, Katherine, Gregoire‐Bottex, M. Myrtha
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5290503/
https://ncbi.nlm.nih.gov/pubmed/28174639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.764
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