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Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.

Pediatrics and neonatology - 1 Dec 2008

Lin Chao-Jen, Chang Shun-Ping, Ke Yu-Yuan, Chiu Han-Yao, Tsao Lon-Yen, Chen Ming

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is considered to be a rare disease in Asians. We report two cases of CF in a 5-year-old girl and her newborn brother. They are of mixed parentage: a Taiwanese mother and an Australian father. METHODS: A comprehensive mutational analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was completed. Literature was reviewed for delta F508 in East Asians....

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Source

Identifiers

PMID: 19166122
DOI: 10.1016/S1875-9572(09)60018-8

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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