Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Abstract

Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 mutations are private.

Journal

Journal ID (iso-abbrev): Am. J. Respir. Crit. Care Med.

Title: American journal of respiratory and critical care medicine

ISSN (Electronic): 1535-4970

ISSN (Print): 1073-449X

Publication date (Electronic): Jun 15 2014

Volume: 189

Issue: 12

Affiliations

[1 ] 1 Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

Article

DOI: 10.1164/rccm.201402-0342OC

PMC ID: 4226019

PubMed ID: 24871971