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
//