Izumi Hiroki, Kurai Jun, Kodani Masahiro, Watanabe Masanari, Yamamoto Akihiro, Nanba Eiji, Adachi Kaori, Igishi Tadashi, Shimizu Eiji
Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.
Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University , Yonago, Japan.
Hum Genome Var. 2017 Jan 26;4:16047. doi: 10.1038/hgv.2016.47. eCollection 2017.
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in and characterized by intra-alveolar accumulation of microliths. We diagnosed a case of PAM in a 27-year-old Japanese female and identified a novel mutation in (c.1390 G>C [G464R] in exon 12).
肺泡微石症（PAM）是一种罕见的常染色体隐性疾病，由基因突变引起，其特征为肺泡内微石积聚。我们诊断出一名27岁日本女性患有肺泡微石症，并在该基因中发现了一个新的突变（第12外显子中的c.1390 G>C [G464R]）。
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