Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.

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  • Additional Information
    • Source:
      Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
    • Publication Information:
      Original Publication: New York : Wiley-Liss, c1992-
    • Subject Terms:
      Mutation* ; Polymorphism, Genetic* ; X Chromosome*; Pyruvate Dehydrogenase Complex/*genetics ; Pyruvate Dehydrogenase Complex Deficiency Disease/*genetics; Amino Acid Sequence ; Base Sequence ; Child ; Codon/genetics ; Exons ; Female ; Humans ; Molecular Sequence Data ; Pregnancy ; Prenatal Diagnosis
    • Abstract:
      We present an update on mutations and polymorphisms in the human X chromosome located pyruvate dehydrogenase E1 alpha gene. A total of 20 different mutations are tabulated. The mutations include deletions, insertions, and point mutations. Certain sequences seem particularly prone to mutation. Most of the mutations are found in exons 10 and 11. Furthermore, four of the mutations are seen in unrelated patients. Little is known about how the mutations affect the structure or function of the pyruvate dehydrogenase complex.
    • Number of References:
      33
    • Grant Information:
      AM07319 United States AM NIADDK NIH HHS; DK20478 United States DK NIDDK NIH HHS
    • Accession Number:
      0 (Codon)
      0 (Pyruvate Dehydrogenase Complex)
    • Publication Date:
      Date Created: 19920101 Date Completed: 19930601 Latest Revision: 20071114
    • Publication Date:
      20240829
    • Accession Number:
      10.1002/humu.1380010203
    • Accession Number:
      1301207