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Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

Translated title of the contribution: Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion
  • E. Christensen
  • , A. Ribes
  • , C. Busquets
  • , M. Pineda
  • , M. Duran
  • , B.T. Poll-The
  • , C.R. Greenberg
  • , H. Leffers
  • , M. Schwartz

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contributionCompound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion
Original languageUndefined/Unknown
Pages (from-to)383-386
Number of pages4
JournalJournal of Inherited Metabolic Disease
Volume20
Publication statusPublished - 1997

Keywords

  • Econometric and Statistical Methods: General
  • Genetics
  • Geneeskunde(GENK)
  • Algemeen onderzoek

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