title: A novelSLC34A2mutation in a patient with pulmonary alveolar microlithiasis.
abstract: Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations inSLC34A2and 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 inSLC34A2(c.1390 G>C [G464R] in exon 12).
authors.affiliation: Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Izumi
authors.affiliation: Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Kurai
authors.affiliation: Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Kodani
authors.affiliation: Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.
authors.forename: Masanari
authors.initials: M
authors.lastname: Watanabe
authors.affiliation: Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Yamamoto
authors.affiliation: Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University , Yonago, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.affiliation: Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University , Yonago, Japan.
authors.forename: Kaori
authors.initials: K
authors.lastname: Adachi
authors.affiliation: Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Igishi
authors.affiliation: Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University , Yonago, Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Shimizu