The classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system-Reference-Cited by-同舟云学术

The classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system

Published:2018-03 Issue:1 Volume:2 Page:17-24
ISSN:2574-2272
Container-title:Pediatric Investigation
language:en
Short-container-title:Pediatr Invest

Author:

Denman Laura¹²,Yonker Lael M.¹²,Kinane Thomas Bernard¹²

Affiliation:

1. Pulmonary Division; MassGeneral Hospital for Children; Boston MA USA

2. Department of Pediatrics; Harvard Medical School; Boston MA USA

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Reference22 articles.

1. ABCA3 gene mutations in newborns with fatal surfactant deficiency;Shulenin;N Engl J Med,2004

2. The human ATP-binding cassette (ABC) transporter superfamily;Dean;J Lipid Res,2001

3. ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system;Peca;Biochem Soc Trans,2015

4. Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children;Flamein;Hum Mol Genet,2012

5. Ultrastructure of lamellar bodies in congenital surfactant deficiency;Edwards;Ultrastruct Pathol,2005

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2. Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?;American Journal of Respiratory Cell and Molecular Biology;2022-11

3. Gene Therapeutics for Surfactant Dysfunction Disorders: Targeting the Alveolar Type 2 Epithelial Cell;Human Gene Therapy;2022-10-01

4. Gene Therapy Potential for Genetic Disorders of Surfactant Dysfunction;Frontiers in Genome Editing;2022-01-14

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