Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated dutch families

Grazia Verheijen - Mancini, Coriene Catsman - Berrevoets, IFM Coo, Femke Aarsen, Jozef Kamphoven, Jan Huijmans, M (Mercedes) Duran, MS van der Knaap, C Jakobs, GS Salomons

Research output: Contribution to journalArticleAcademicpeer-review

52 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)288-295
Number of pages8
JournalAmerican Journal of Medical Genetics Part A
Issue number3
Publication statusPublished - 2005

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