An intronic ABCA3 mutation that is responsible for respiratory disease

Pediatric Research

Volumn 71, Issue 6, 2012, Pages 633-637

  Agrawal, Amit ^a   Hamvas, Aaron ^b   Cole, F Sessions ^b   Wambach, Jennifer A ^b   Wegner, Daniel ^b   Coghill, Carl ^c   Harrison, Keith ^c   Nogee, Lawrence M ^a  

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

^b ST LOUIS CHILDREN S HOSPITAL   (United States)

^c University of Alabama at Birmingham   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; MESSENGER RNA; PROTEIN ABCA3; UNCLASSIFIED DRUG;

ABCA3 GENE; ARTICLE; CHILD; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FATALITY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; INTERSTITIAL LUNG DISEASE; INTRON; LUNG PARENCHYMA; MALE; MISSENSE MUTATION; NEONATAL RESPIRATORY DISTRESS SYNDROME; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; RESPIRATORY FAILURE; RESPIRATORY TRACT DISEASE; RNA SPLICING;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; DNA; FATAL OUTCOME; HUMANS; INFANT; INTRONS; MALE; MUTATION; RESPIRATORY INSUFFICIENCY; SEQUENCE ANALYSIS, DNA;

EID: 84861371263     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1038/pr.2012.21     Document Type: Article

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