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Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

The Korean journal of laboratory medicine - 1 Jul 2011

Jung Haiyoung, Ki Chang-Seok, Koh Won-Jung, Ahn Kang-Mo, Lee Sang-Il, Kim Jeong-Ho, Ko Jae Sung, Seo Jeong Kee, Cha Seung-Ick, Lee Eun-Sil, Kim Jong-Won

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. The most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been well established among Caucasian populations. In Koreans, however, there are very few cases of genetically confirmed CF thus far, and the spectrum of mutations seems quite different from that observed in...

Topics

Adult
Alleles
Asian People
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Heterozygote
Humans
Male
Mutation
Republic of Korea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Analysis, DNA

Young Adult

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Open in PubMed Open full text

Identifiers

PMID: 21779199
DOI: 10.3343/kjlm.2011.31.3.219
PMCID: PMC3129356

Genes

CFTR

Variants

Provenance

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

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