Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations.

Gower, W Adam

Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations. [electronic resource] - The Journal of pediatrics Jul 2010 - 62-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1097-6833

10.1016/j.jpeds.2010.01.010 doi


ATP-Binding Cassette Transporters--genetics
Autopsy
Child
Chromosome Segregation
Exons
Family
Fatal Outcome
Female
Genetic Predisposition to Disease
Genotype
Humans
Lung--metabolism
Lung Diseases--complications
Male
Microscopy, Electron
Mutation
Pedigree
Polymorphism, Single Nucleotide
Respiratory Insufficiency--etiology
Siblings