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

doi:10.1002/ajmg.a.30473

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 Journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	288-295
Journal	American Journal of Medical Genetics Part A
Volume	132
Issue number	3
Early online date	30 Jan 2005
DOIs	https://doi.org/10.1002/ajmg.a.30473
Publication status	Published - 2005
Externally published	Yes

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

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

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

year = "2005",

doi = "10.1002/ajmg.a.30473",

language = "English",

volume = "132",

pages = "288--295",

journal = "American Journal of Medical Genetics Part A",

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Mancini, GM, Catsman-Berrevoets, CE, de Coo, IF, Aarsen, FK, Kamphoven, JH, Huijmans, JG, Duran, M, van der Knaap, MS, Jakobs, CAJM & Salomons, GS 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, vol. 132, no. 3, pp. 288-295. https://doi.org/10.1002/ajmg.a.30473

TY - JOUR

T1 - Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families

AU - Mancini, G.M.

AU - Catsman-Berrevoets, C.E.

AU - de Coo, I.F.

AU - Aarsen, F.K.

AU - Kamphoven, J.H.

AU - Huijmans, J.G.

AU - Duran, M.

AU - van der Knaap, M.S.

AU - Jakobs, C.A.J.M.

AU - Salomons, G.S.

PY - 2005

Y1 - 2005

U2 - 10.1002/ajmg.a.30473

DO - 10.1002/ajmg.a.30473

M3 - Article

VL - 132

SP - 288

EP - 295

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

SN - 1552-4825

IS - 3

ER -