Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress. (scientific article published on 6 July 2007)

Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles.

Q34355657

Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.

Q34564474

Alteration of the Pulmonary Surfactant System in Full-Term Infants with Hereditary ABCA3 Deficiency

Q62661453

Serum and bronchoalveolar fluid KL-6 levels in patients with pulmonary alveolar proteinosis

Q77400209

P433

issue

P921

main subject

heterozygosity

Q124059385

P304

page(s)

691-693

P577

publication date

2007-07-06

P1433

published in

European Journal of Pediatrics

Q15755736

P1476

title

Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress.

P478

volume

167

Reverse relations

cites work (P2860)

Q35801008	A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration
Q39954325	Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease
Q43073155	Biosynthesis of phosphatidylcholine by human lysophosphatidylcholine acyltransferase 1.
Q43939174	Different course of lung disease in two siblings with novel ABCA3 mutations
Q83050322	Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report
Q35513452	Genetic Basis of Children's Interstitial Lung Disease
Q28235256	Genetic disorders of surfactant dysfunction
Q24626239	Genetic interstitial lung disease
Q41926670	Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations
Q41923912	Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency

P356	DOI	10.1007/S00431-007-0542-8
P698	PubMed publication ID	17618459