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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Détails bibliographiques
Publié dans:Respir Med Case Rep
Auteurs principaux: Vismara, Marco Favio Michele, Colao, Emma, Fabiani, Fernanda, Bombardiere, Francesco, Tamburrini, Oscar, Alessio, Caterina, Manti, Francesco, Pelaia, Gerolamo, Romeo, Pasquale, Iuliano, Rodolfo, Perrotti, Nicola
Format: Artigo
Langue:Inglês
Publié: Elsevier 2015
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4681981/
https://ncbi.nlm.nih.gov/pubmed/26744662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.rmcr.2015.08.002
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