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...

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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

Internet

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

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