000 01637 a2200493 4500
005 20250515214255.0
264 0 _c20100903
008 201009s 0 0 eng d
022 _a1097-6833
024 7 _a10.1016/j.jpeds.2010.01.010
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGower, W Adam
245 0 0 _aFatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations.
_h[electronic resource]
260 _bThe Journal of pediatrics
_cJul 2010
300 _a62-8 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aATP-Binding Cassette Transporters
_xgenetics
650 0 4 _aAutopsy
650 0 4 _aChild
650 0 4 _aChromosome Segregation
650 0 4 _aExons
650 0 4 _aFamily
650 0 4 _aFatal Outcome
650 0 4 _aFemale
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aLung
_xmetabolism
650 0 4 _aLung Diseases
_xcomplications
650 0 4 _aMale
650 0 4 _aMicroscopy, Electron
650 0 4 _aMutation
650 0 4 _aPedigree
650 0 4 _aPolymorphism, Single Nucleotide
650 0 4 _aRespiratory Insufficiency
_xetiology
650 0 4 _aSiblings
700 1 _aWert, Susan E
700 1 _aGinsberg, Jennifer S
700 1 _aGolan, Agneta
700 1 _aWhitsett, Jeffrey A
700 1 _aNogee, Lawrence M
773 0 _tThe Journal of pediatrics
_gvol. 157
_gno. 1
_gp. 62-8
856 4 0 _uhttps://doi.org/10.1016/j.jpeds.2010.01.010
_zAvailable from publisher's website
999 _c19667970
_d19667970