Article
Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis.
American journal of respiratory and critical care medicine - 1 Feb 2007
Huqun, Izumi Shinyu, Miyazawa Hitoshi, Ishii Kuniaki, Uchiyama Bine, Ishida Tadashi, Tanaka Sawako, Tazawa Ryushi, Fukuyama Shunichiro, Tanaka Tomoaki, Nagai Yoshiaki, Yokote Akemi, Takahashi Hiroki, Fukushima Toshihiko, Kobayashi Kunihiko, Chiba Hirofumi, Nagata Makoto, Sakamoto Susumu, Nakata Koichiro, Takebayashi Yuji, Shimizu Yoshihiko, Kaneko Koichi, Shimizu Michio, Kanazawa Minoru, Abe Shosaku, Inoue Yoshikazu, Takenoshita Seiichi, Yoshimura Kunihiko, Kudo Koichiro, Tachibana Teruo, Nukiwa Toshihiro, Hagiwara Koichi
Abstract excerpt
RATIONALE: Pulmonary alveolar microlithiasis is an autosomal recessive disorder in which microliths are formed in the alveolar space. OBJECTIVES: To identify the responsible gene that causes pulmonary alveolar microlithiasis. METHODS: By means of a genomewide single-nucleotide polymorphism analysis using DNA from three patients, we have narrowed the region in which the candidate gene is located. From this region,...
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