Fatal Familial Lung Disease Caused by ABCA3 Deficiency without Identified ABCA3 Mutations

Journal of Pediatrics

Volumn 157, Issue 1, 2010, Pages 62-68

  Gower, W Adam ^a   Wert, Susan E ^b   Ginsberg, Jennifer S ^a   Golan, Agneta ^c   Whitsett, Jeffrey A ^b   Nogee, Lawrence M ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A3; ANTIBIOTIC AGENT; CORTICOSTEROID; NITRIC OXIDE; SILDENAFIL; SURFACTANT; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ABC TRANSPORTER DEFICIENCY; ARTICLE; CASE REPORT; CAUSE OF DEATH; EXON; FEMALE; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; NEWBORN; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REGULATORY DNA SEQUENCE; RESPIRATORY FAILURE; SIBLING;

ATP-BINDING CASSETTE TRANSPORTERS; AUTOPSY; CHILD; CHROMOSOME SEGREGATION; EXONS; FAMILY; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LUNG; LUNG DISEASES; MALE; MICROSCOPY, ELECTRON; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RESPIRATORY INSUFFICIENCY; SIBLINGS;

EID: 77953478729     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.01.010     Document Type: Article

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