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Article

Cystic fibrosis mutations and genotype-pulmonary phenotype analysis.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2006

Braun Andrew T, Farrell Philip M, Ferec Claude, Audrezet Marie Pierre, Laxova Anita, Li Zhanhai, Kosorok Michael R, Rosenberg Marjorie A, Gershan William M

Abstract excerpt

BACKGROUND: Although there are more than 1000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, most of them are uncommon and only limited information exists regarding genotype-pulmonary phenotype relationships. METHODS: We determined and classified the CFTR mutations using denaturing high-performance liquid chromatography and developed new, quantitative methods to categorize...

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Source

Identifiers

PMID: 16275171
DOI: 10.1016/j.jcf.2005.09.008

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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