Open AccessA novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
Author(s) -
Hiroki Izumi,
Jun Kurai,
Masahiro Kodani,
Masanari Watanabe,
Akihiro Yamamoto,
Eiji Nanba,
Kaori Adachi,
Tadashi Igishi,
Eiji Shimizu
Publication year - 2017
Publication title -
human genome variation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.796
H-Index - 14
ISSN - 2054-345X
DOI - 10.1038/hgv.2016.47
Subject(s) - mutation , pathology , exon , medicine , genetics , biology , gene
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 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 SLC34A2 (c.1390 G>C [G464R] in exon 12).
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom