A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis

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] i...

Descripción completa

Detalles Bibliográficos
Autores principales: Izumi, Hiroki, Kurai, Jun, Kodani, Masahiro, Watanabe, Masanari, Yamamoto, Akihiro, Nanba, Eiji, Adachi, Kaori, Igishi, Tadashi, Shimizu, Eiji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5267164/
https://www.ncbi.nlm.nih.gov/pubmed/28144448
http://dx.doi.org/10.1038/hgv.2016.47
_version_ 1782500594499452928
author Izumi, Hiroki
Kurai, Jun
Kodani, Masahiro
Watanabe, Masanari
Yamamoto, Akihiro
Nanba, Eiji
Adachi, Kaori
Igishi, Tadashi
Shimizu, Eiji
author_facet Izumi, Hiroki
Kurai, Jun
Kodani, Masahiro
Watanabe, Masanari
Yamamoto, Akihiro
Nanba, Eiji
Adachi, Kaori
Igishi, Tadashi
Shimizu, Eiji
author_sort Izumi, Hiroki
collection PubMed
description 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).
format Online
Article
Text
id pubmed-5267164
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-52671642017-01-31 A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis Izumi, Hiroki Kurai, Jun Kodani, Masahiro Watanabe, Masanari Yamamoto, Akihiro Nanba, Eiji Adachi, Kaori Igishi, Tadashi Shimizu, Eiji Hum Genome Var Data Report 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). Nature Publishing Group 2017-01-26 /pmc/articles/PMC5267164/ /pubmed/28144448 http://dx.doi.org/10.1038/hgv.2016.47 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Izumi, Hiroki
Kurai, Jun
Kodani, Masahiro
Watanabe, Masanari
Yamamoto, Akihiro
Nanba, Eiji
Adachi, Kaori
Igishi, Tadashi
Shimizu, Eiji
A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
title A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
title_full A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
title_fullStr A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
title_full_unstemmed A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
title_short A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
title_sort novel slc34a2 mutation in a patient with pulmonary alveolar microlithiasis
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5267164/
https://www.ncbi.nlm.nih.gov/pubmed/28144448
http://dx.doi.org/10.1038/hgv.2016.47
work_keys_str_mv AT izumihiroki anovelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT kuraijun anovelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT kodanimasahiro anovelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT watanabemasanari anovelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT yamamotoakihiro anovelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT nanbaeiji anovelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT adachikaori anovelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT igishitadashi anovelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT shimizueiji anovelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT izumihiroki novelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT kuraijun novelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT kodanimasahiro novelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT watanabemasanari novelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT yamamotoakihiro novelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT nanbaeiji novelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT adachikaori novelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT igishitadashi novelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis
AT shimizueiji novelslc34a2mutationinapatientwithpulmonaryalveolarmicrolithiasis

Ejemplares similares