Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant

Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations

(2013) Hiroshi Kitazawa et al.   EUROPEAN JOURNAL OF PEDIATRICS

Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency

(2013) Michael Williamson et al.   PEDIATRIC PULMONOLOGY

Long-term macrolide treatment of chronic inflammatory airway diseases: risks, benefits and future developments

(2012) E. J. Cameron et al.   CLINICAL AND EXPERIMENTAL ALLERGY

Single ABCA3 Mutations Increase Risk for Neonatal Respiratory Distress Syndrome

(2012) J. A. Wambach et al.   PEDIATRICS

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children

(2011) Florence Flamein et al.   HUMAN MOLECULAR GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Genetic Disorders of Surfactant Dysfunction

(2009) Susan E. Wert et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY