Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Creatine Transporter Research Group, Suzanne Frints

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)596-601
JournalMolecular Genetics and Metabolism
Volume105
Issue number4
DOIs
Publication statusPublished - Apr 2012

Keywords

  • SLC6A8
  • Creatine transporter
  • Missense variants
  • LOVD
  • DHPLC

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