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

ABSTRACT: 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 analyses and genotyping particularly in minority populations.

SUBMITTER: Soe K

PROVIDER: S-EPMC5290503 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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

Soe Katherine K Gregoire-Bottex M Myrtha MM

Clinical case reports 20170119 2

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 analyses and genotyping particularly in minority populations. ...[more]

PMID: 28174639

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