LOCUS S70578 100 bp RNA linear HUM 23-SEP-1994 DEFINITION acetoacetyl-coenzyme A thiolase {Q272STOP, exon 8} [human, GK07, Pre-mRNA Partial Mutant, 100 nt]. ACCESSION S70578 VERSION S70578.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 100) AUTHORS Fukao,T., Yamaguchi,S., Wakazono,A., Orii,T., Hoganson,G. and Hashimoto,T. TITLE Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency JOURNAL J. Clin. Invest. 93 (3), 1035-1041 (1994) PUBMED 7907600 REMARK GenBank staff at the National Library of Medicine created this entry [NCBI gibbsq 148980] from the original journal article. FEATURES Location/Qualifiers source 1..100 /db_xref="H-InvDB:HIT000367362" /organism="Homo sapiens" /mol_type="transcribed RNA" /db_xref="taxon:9606" gene 1..100 /gene="acetoacetyl-coenzyme A thiolase" /note="Mitochondrial acetoacetyl-coenzyme A thiolase" BASE COUNT 40 a 10 c 25 g 25 t ORIGIN 1 aggtcaacca gatgtagtgg tgaaagaaga tgaagaatat aaacgtgttg attttagcaa 61 agttccaaag ctgaagacag ttttctagaa agaaaatggt //