Work

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

Year: 2012

Type: article

Study design: Case Report

Source: Journal of Human Genetics

DOI: 10.1038/jhg.2012.46

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

Institutions: Research Center of Health, Physical Fitness and Sports, Nagoya University, Nagoya University, Nagoya University of Arts and Sciences, Kagoshima University, YAO Municipal Hospital, Nishio Municipal Hospital

Language: English

Topic: Cystic Fibrosis Research Advances

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Ministry of Health, Labour and Welfare

OpenAlex ID: W1978640755

FWCI: 0.773

Cites: 24

Cited by: 13

Related to: 10