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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
ABCA3
gene.
Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med. 2006 Sep 1;174(5):571-80. Epub 2006 May 25.
PubMed citation
Cheong N, Zhang H, Madesh M, Zhao M, Yu K, Dodia C, Fisher AB, Savani RC, Shuman H. ABCA3 is critical for lamellar body biogenesis in vivo. J Biol Chem. 2007 Aug 17;282(33):23811-7. Epub 2007 May 31.
PubMed citation
Entrez
Gene
Matsumura Y, Ban N, Inagaki N. Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. Am J Physiol Lung Cell Mol Physiol. 2008 Oct;295(4):L698-707. doi: 10.1152/ajplung.90352.2008. Epub 2008 Aug 1.
PubMed citation
Matsumura Y, Ban N, Ueda K, Inagaki N. Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem. 2006 Nov 10;281(45):34503-14. Epub 2006 Sep 7.
PubMed citation
OMIM:
ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER
3
Reviewed: July 2012
Published: February 25, 2013