Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis.

Journal of human genetics - 1 Jul 2012

Nakakuki Miyuki, Fujiki Kotoyo, Yamamoto Akiko, Ko Shigeru B H, Yi Lanjuan, Ishiguro Mariko, Yamaguchi Makoto, Kondo Shiho, Maruyama Shinsuke, Yanagimoto Kosuke, Naruse Satoru, Ishiguro Hiroshi

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in CFTR (CF transmembrane conductance regulator). Although CF is the most common hereditary disease in Caucasians, it is rare in Asian populations. Common disease-causing mutations of CFTR in Caucasians are rarely identifi...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chlorides
Share to Cloning, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Nasal Mucosa

Share to RNA Splicing

Share to Sequence Deletion

Source

Identifiers

PMID: 22572733
DOI: 10.1038/jhg.2012.46

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22572733-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis.PMID 22572733Read ↗

Clinical and genetic features of cystic fibrosis in Japan.Semantic proximity Read ↗

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.Semantic proximity Read ↗

Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported casesSemantic proximity Read ↗

Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis.Semantic proximity Read ↗

Four case reports of Chinese cystic fibrosis patients and literature review.Semantic proximity Read ↗

p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosisSemantic proximity Read ↗

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.Semantic proximity Read ↗

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.Semantic proximity Read ↗

Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.Semantic proximity Read ↗

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.Semantic proximity Read ↗

Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.Semantic proximity Read ↗

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.