A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency

Molecular Genetics and Metabolism

Volumn 92, Issue 3, 2007, Pages 229-233

  Okubo, Minoru ^a,b   Horinishi, Asako ^a   Saito, Mieko ^c   Ebara, Tetsu ^a   Endo, Yoriko ^a   Kaku, Kohei ^d   Murase, Toshio ^a   Eto, Masaaki ^c  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b TORANOMON HOSPITAL   (Japan)

^c OHU UNIVERSITY   (Japan)

^d KAWASAKI MEDICAL SCHOOL   (Japan)

Author keywords

Alu repetitive element; Chylomicronemia; Complex deletion insertion; Lipoprotein lipase; LPL; LPL deficiency; Retrotransposition

Indexed keywords

LIPOPROTEIN LIPASE;

ACUTE PANCREATITIS; ADULT; ARTICLE; CASE REPORT; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY HISTORY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; INTRON; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

ACUTE DISEASE; ADULT; ALU ELEMENTS; BASE SEQUENCE; BLOTTING, SOUTHERN; DNA TRANSPOSABLE ELEMENTS; FEMALE; HUMANS; LIPOPROTEIN LIPASE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; PANCREATITIS; POLYMERASE CHAIN REACTION; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 34848871920     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.06.018     Document Type: Article

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