The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3

The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3

Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of calcium phosphate gradually accumulate in alveoli. Loss of function mutations in the gene SLC34A2 coding for the sodium phosphate co-transporter (NaPi-IIb) are responsible for genetic forms of alveolar micro...

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Bibliographic Details
Main Authors: Marco Favio Michele Vismara, Emma Colao, Fernanda Fabiani, Francesco Bombardiere, Oscar Tamburrini, Caterina Alessio, Francesco Manti, Gerolamo Pelaia, Pasquale Romeo, Rodolfo Iuliano, Nicola Perrotti
Format: Article
Language:English
Published: Elsevier 2015-01-01
Series:Respiratory Medicine Case Reports
Subjects:
SLC34A2
NaPi-IIb
Pulmonary alveolar microlithiasis
Online Access:http://www.sciencedirect.com/science/article/pii/S221300711530023X

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http://www.sciencedirect.com/science/article/pii/S221300711530023X

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