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A novel mutation in a patient with pulmonary alveolar microlithiasis. | LitMetric

A novel mutation in a patient with pulmonary alveolar microlithiasis.

Hum Genome Var

Faculty of Medicine, Division of Medical Oncology and Molecular Respirology, Tottori University, Yonago, Japan.

Published: January 2017

AI Article Synopsis

Article Abstract

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in 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 (c.1390 G>C [G464R] in exon 12).

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5267164PMC
http://dx.doi.org/10.1038/hgv.2016.47DOI Listing

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