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Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ae2deae668ac47a59d916cfdbe348b64

Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

About this item

Full title

Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

Publisher

England: BioMed Central

Journal title

Molecular medicine (Cambridge, Mass.), 2016-01, Vol.22 (1), p.183-191

Language

English

Formats

Publication information

Publisher

England: BioMed Central

More information

Scope and Contents

Contents

The
gene encodes a lipid transporter in type II pneumocytes critical for survival and normal respiratory function. The frequent ABCA3 variant R288K increases the risk for neonatal respiratory distress syndrome among term and late preterm neonates, but its role in children's interstitial lung disease has not been studied in detail. In a retrospec...

Alternative Titles

Full title

Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_ae2deae668ac47a59d916cfdbe348b64

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ae2deae668ac47a59d916cfdbe348b64

Other Identifiers

ISSN

1076-1551

E-ISSN

1528-3658

DOI

10.2119/molmed.2015.00244

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