Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations. [electronic resource]
Producer: 20100903Description: 62-8 p. digitalISSN:- 1097-6833
- 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
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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