Condition: Hamman-Rich syndrome


rs149989682 in ABCA3 gene and Hamman-Rich syndrome PMID 24136335 2014 Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.

PMID 23166334 2012 Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

PMID 25553246 2014 Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.

PMID 22800827 2012 Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.

PMID 24871971 2014 Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

PMID 18317237 2008 Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

PMID 18246475 2008 Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.

PMID 22145626 2012 ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.

PMID 22866751 2012 Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

PMID 15976379 2005 ABCA3 mutations associated with pediatric interstitial lung disease.

PMID 18676873 2008 Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.

PMID 22435821 2012 Structural and dynamic aspects of Ca2+ and Mg2+ binding of the regulatory domains of the Na+/Ca2+ exchanger.

PMID 25073622 2014 Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).

PMID 18603241 2008 Cerebropulmonary dysgenetic syndrome.

PMID 22304854 2012 A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.

PMID 17597647 2007 Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.

PMID 18024538 2008 Clinical, radiological and pathological features of ABCA3 mutations in children.