Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency

Molecular Genetics and Metabolism

Volumn 89, Issue 3, 2006, Pages 222-226

  Zhang, Gaixiu ^a   Fukao, Toshiyuki ^a   Sakurai, Satomi ^a   Yamada, Keitaro ^a   Michael Gibson, K ^b   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

Alu elements; Deletion; Homologous recombination; Mitochondrial acetoacetyl CoA thiolase; Mutation; T2 deficiency

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; COMPLEMENTARY DNA;

ALU SEQUENCE; ARTICLE; CASE REPORT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; DNA TRANSCRIPTION; ENZYME DEFICIENCY; EXON; GENE DELETION; GENE INSERTION; GENE SEQUENCE; GENETIC RECOMBINATION; GENOME ANALYSIS; HUMAN; HUMAN CELL; INTRON; MALE; METABOLIC DISORDER; MITOCHONDRIAL ACETOACETYL COENZYME A THIOLASE DEFICIENCY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SOUTHERN BLOTTING;

ACETYL-COA C-ACETYLTRANSFERASE; ALU ELEMENTS; BASE SEQUENCE; BLOTTING, SOUTHERN; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; GENOME, HUMAN; HUMANS; INFANT; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SEQUENCE DELETION;

EID: 33748959683     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.06.010     Document Type: Article

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