The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the a-galactosidase A

Translated title of the contribution: The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the a-galactosidase A

EM Beyer, EA Karpova, OV Udalova, J.K. Ploos van Amstel, O.P. van Diggelen, IV Tsvetkova

Research output: Contribution to journalArticleAcademicpeer-review

Translated title of the contributionThe multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the a-galactosidase A
Original languageUndefined/Unknown
Pages (from-to)81-89
Number of pages9
JournalClinica Chimica Acta
Volume280
Publication statusPublished - 1999

Keywords

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

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