An intronic ABCA3 mutation that is responsible for respiratory disease

High-throughput discovery of rare insertions and deletions in large cohorts

(2010) F. L. M. Vallania et al.   GENOME RESEARCH

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients

(2010) Lucy Costantino et al.   Journal of Cystic Fibrosis

Fatal Familial Lung Disease Caused by ABCA3 Deficiency without Identified ABCA3 Mutations

(2010) W. Adam Gower et al.   JOURNAL OF PEDIATRICS

Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 Genes

(2009) Aaron Hamvas et al.   JOURNAL OF PEDIATRICS

Quantification of rare allelic variants from pooled genomic DNA

(2009) Todd E Druley et al.   NATURE METHODS

Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease

(2008) Yoshihiro Matsumura et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY