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A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.

Human molecular genetics - 15 Sept 2003

Lee Ji Hyun, Choi Ji Ha, Namkung Wan, Hanrahan John W, Chang Joon, Song Si Young, Park Seung Woo, Kim Dong Soo, Yoon Joo-Heon, Suh Yousin, Jang In-Jin, Nam Joo Hyun, Kim Sung Joon, Cho Mi-Ook, Lee Jong-Eun, Kim Kyung Hwan, Lee Min Goo

Abstract excerpt

Aberrant membrane transport caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is associated with a wide spectrum of respiratory and digestive diseases as well as cystic fibrosis. Using a gene scanning method, we found 11 polymorphisms and mutations of the CFTR gene in the Korean population. Individual variants at these sites were analyzed by conventional DNA screening in...

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Identifiers

PMID: 12952861
DOI: 10.1093/hmg/ddg243

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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