The c.3140-26A>G Variant of the CFTR Gene in Homozygous State Causes Mild Cystic Fibrosis - Overview of Longitudinal Clinical Data of the Patient Managed in our CF Center and Review of the Literature.

Kotnik Pirs, Ana; Krivec, Uros; Trebusak Podkrajsek, Katarina

Kotnik Pirs, Ana; Krivec, Uros; Trebusak Podkrajsek, Katarina.

Acta Chim Slov ; 67(2): 666-673, 2020 Jun.

Article in En | MEDLINE | ID: mdl-33855558

Subject(s)

Cystic Fibrosis Transmembrane Conductance Regulator/genetics; Cystic Fibrosis/etiology; Alternative Splicing; Child; Cystic Fibrosis/genetics; Female; Humans; Longitudinal Studies; Mutation; RNA, Messenger/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis Type of study: Etiology_studies / Observational_studies Limits: Child / Female / Humans Language: En Journal: Acta Chim Slov Year: 2020 Type: Article

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