An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

Human Genetics

Volumn 112, Issue 4, 2003, Pages 419-425

  Ricci, Verena ^a   Regis, Stefano ^a   Di Duca, Marco ^a   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ALLELE; ALU SEQUENCE; ARTICLE; CASE REPORT; CHROMOSOME; CHROMOSOME XQ; COMPUTER PROGRAM; CONTROLLED STUDY; ENZYME ANALYSIS; EXON; GENE DELETION; GENE EXPRESSION; GENE REARRANGEMENT; GENE SEQUENCE; GENOMICS; HUMAN; HUNTER SYNDROME; MUTANT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; ALTERNATIVE RNA SPLICING; GENETICS; MUTATION; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; ALU ELEMENTS; CHILD, PRESCHOOL; EXONS; GENE REARRANGEMENT; HUMANS; MUCOPOLYSACCHARIDOSIS II; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 0038576232     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0900-6     Document Type: Article

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