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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Publicado no:Hum Genome Var
Main Authors: Izumi, Hiroki, Kurai, Jun, Kodani, Masahiro, Watanabe, Masanari, Yamamoto, Akihiro, Nanba, Eiji, Adachi, Kaori, Igishi, Tadashi, Shimizu, Eiji
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5267164/
https://ncbi.nlm.nih.gov/pubmed/28144448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.47
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