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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....

Topics

Australia
Child
Child, Preschool
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Genotype
Humans
Infant, Newborn
Male
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Taiwan

Source

Identifiers

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

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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