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Article

Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in Argentina.

Molecular genetics and metabolism - 1 Apr 2006

Ramírez Ana María Oller, Ramos María D, Jiménez Javier, Ghio Addy, de Botelli Myrna Melano, Rezzónico Carlos A, Marqués Inés, Pereyro Silvia, Casals Teresa, de Kremer Raquel Dodelson

Abstract excerpt

Cystic Fibrosis (CF) is an autosomal recessive disorder affecting 1/2000-4000 newborns in Caucasian populations. This lethal disease mainly affects respiratory and digestive organs as well as fertility in man. So far, the CF prevalence and mutational spectrum have showed specificity among populations and regions, making it necessary to establish them in each one. In this study, we present the spectrum and...

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PMID: 16423550
DOI: 10.1016/j.ymgme.2005.12.001

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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.

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