Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

C.L. Desroches, J. Patel, P.X. Wang, B. Minassian, C.R. Marshall, G. Salomons, S. Mercimek-Mahmutoglu

Research output: Contribution to journalArticleAcademicpeer-review

20 Citations (Scopus)
Original languageEnglish
Pages (from-to)2163-2171
JournalMolecular Genetics and Genomics
Volume290
Issue number6
DOIs
Publication statusPublished - 2015

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