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

G.M. Mancini, C.E. Catsman-Berrevoets, I.F. de Coo, F.K. Aarsen, J.H. Kamphoven, J.G. Huijmans, M. Duran, M.S. van der Knaap, C.A.J.M. Jakobs, G.S. Salomons

Research output: Contribution to JournalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)288-295
JournalAmerican Journal of Medical Genetics Part A
Volume132
Issue number3
Early online date30 Jan 2005
DOIs
Publication statusPublished - 2005
Externally publishedYes

Cite this

Mancini, G. M., Catsman-Berrevoets, C. E., de Coo, I. F., Aarsen, F. K., Kamphoven, J. H., Huijmans, J. G., ... Salomons, G. S. (2005). Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. American Journal of Medical Genetics Part A, 132(3), 288-295. https://doi.org/10.1002/ajmg.a.30473