Article
Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
Internal medicine (Tokyo, Japan) - 1 Jan 2009
Izumikawa Koichi, Tomiyama Yumiko, Ishimoto Hiroshi, Sakamoto Noriho, Imamura Yoshifumi, Seki Masafumi, Sawai Toyomitsu, Kakeya Hiroshi, Yamamoto Yoshihiro, Yanagihara Katsunori, Mukae Hiroshi, Yoshimura Kunihiko, Kohno Shigeru
Abstract excerpt
Cystic fibrosis (CF), the most common lethal hereditary disorder in Caucasians, is quite rare in Southeast Asia including Japan. Here, we report three CF cases encountered in Nagasaki, Japan. Case 1; a 24-year-old man with dyspnea and cough was diagnosed as CF with a missense mutation Q98R in exon 4 and a polymorphic 125C in exon 1 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Case 2; a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.