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

Kimihira Seki, Wataru Abo, Yoshiki Yamamoto, Akihiro Matsuura

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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 disease. Analysis of the CFTR gene of this patient revealed compound heterozygous mutations in exon 11 (1742 delAC) and intron 9 (1525-18 GtoA) of the CFTR gene. - cystic fibrosis; CFTR gene; hereditary disease; molecular diagnosis

Original languageEnglish
Pages (from-to)323-328
Number of pages6
JournalTohoku Journal of Experimental Medicine
Volume187
Issue number4
DOIs
Publication statusPublished - 01-01-1999

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Regulator Genes
Cystic Fibrosis
Genes
Pulmonary diseases
Mutation
Lung Diseases
Chlorides
Exocrine Pancreatic Insufficiency
Cystic Fibrosis Transmembrane Conductance Regulator
Meconium
Inborn Genetic Diseases
Ileus
Sweat
Introns
Exons

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

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Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis. / Seki, Kimihira; Abo, Wataru; Yamamoto, Yoshiki; Matsuura, Akihiro.

In: Tohoku Journal of Experimental Medicine, Vol. 187, No. 4, 01.01.1999, p. 323-328.

Research output: Contribution to journalArticle

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