TY  - GEN
AU  - Gower,W Adam
AU  - Wert,Susan E
AU  - Ginsberg,Jennifer S
AU  - Golan,Agneta
AU  - Whitsett,Jeffrey A
AU  - Nogee,Lawrence M
TI  - Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations
SN  - 1097-6833
PY  - 2010///0903
KW  - ATP-Binding Cassette Transporters
KW  - genetics
KW  - Autopsy
KW  - Child
KW  - Chromosome Segregation
KW  - Exons
KW  - Family
KW  - Fatal Outcome
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Genotype
KW  - Humans
KW  - Lung
KW  - metabolism
KW  - Lung Diseases
KW  - complications
KW  - Male
KW  - Microscopy, Electron
KW  - Mutation
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Respiratory Insufficiency
KW  - etiology
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.jpeds.2010.01.010
ER  -