Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Molecular Genetics and Metabolism

Volumn 92, Issue 4, 2007, Pages 375-378

  Fukao, Toshiyuki ^a   Zhang, Gaixiu ^a   Rolland, Marie Odile ^b   Zabot, Marie Therese ^b   Guffon, Nathalie ^c   Aoki, Yusuke ^a   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b Centre de Biologie et de Pathologie Est   (France)

^c Hospitalier Edouard Herriot   (France)

Author keywords

Alu elements; Duplication; Recombination; T2

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; COMPLEMENTARY DNA;

ALU SEQUENCE; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TANDEM REPEAT;

ACETYL-COA C-ACETYLTRANSFERASE; ALU ELEMENTS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DUPLICATION; GENOME, HUMAN; HUMANS; MITOCHONDRIAL DISEASES; POLYMERASE CHAIN REACTION; RECOMBINATION, GENETIC;

EID: 36248946195     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.07.007     Document Type: Article

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