A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease

European Journal of Human Genetics

Volumn 8, Issue 9, 2000, Pages 697-703

  Meischl, Christof ^a   De Boer, Martin ^a   Åhlin, Anders ^b   Roos, Dirk ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b SACHS CHILDREN S HOSPITAL   (Sweden)

Author keywords

Chronic granulomatous disease; Insertion; LINE 1; Missplicing; Mutation

Indexed keywords

COMPLEMENTARY DNA; DNA; LONG INTERSPERSED NUCLEAR ELEMENT 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; DISEASE SEVERITY; DNA TRANSPOSITION; EXON; GENE INSERTION; GENE NUMBER; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INTRON; MALE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; X CHROMOSOME LINKAGE;

ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; CHILD, PRESCHOOL; EXONS; FATAL OUTCOME; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INFANT, NEWBORN; INTRONS; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; NADPH OXIDASE; RECOMBINATION, GENETIC;

EID: 0033817843     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200523     Document Type: Article

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