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Article

Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders.

Seminars in respiratory and critical care medicine - 1 Apr 2015

Bombieri Cristina, Seia Manuela, Castellani Carlo

Abstract excerpt

Cystic fibrosis (CF) is characterized by remarkable variability in severity, rate of disease progression, and organ involvement. In spite of the considerable amount of data collected on the relationship between genotype and phenotype in CF, this is still a challenging matter of debate. Barriers to the interpretation of this connection are the large number of mutations in the CF transmembrane regulator (CFTR)...

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Identifiers

PMID: 25826586
DOI: 10.1055/s-0035-1547318

Genes

CFTR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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