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Article

Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis.

The Tohoku journal of experimental medicine - 1 Apr 1999

Seki K, Abo W, Yamamoto Y, Matsuura A

Abstract excerpt

Cystic fibrosis (CF) is an inheritable disorder characterized by defective epithelial chloride transport and progressive lung disease, caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The subject of this study was an 8-year old Japanese boy, who developed typical CF symptoms including meconium ileus, pancreatic insufficiency, an elevated sweat chloride concentration and pulmonary...

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Source

Identifiers

PMID: 10503604
DOI: 10.1620/tjem.187.323

Genes

CFTR

Provenance

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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