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

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 journal › Article › Academic › peer-review

53 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	288-295
Number of pages	8
Journal	American Journal of Medical Genetics Part A
Volume	132A
Issue number	3
Publication status	Published - 2005

Research programs

EMC MGC-02-96-01

Cite this

Verheijen - Mancini, G., Catsman - Berrevoets, C., Coo, IFM., Aarsen, F., Kamphoven, J., Huijmans, J., Duran, M., van der Knaap, MS., Jakobs, C., & 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, 132A(3), 288-295.

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

year = "2005",

language = "Undefined/Unknown",

volume = "132A",

pages = "288--295",

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

issn = "1552-4825",

publisher = "John Wiley & Sons Inc.",

number = "3",

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Verheijen - Mancini, G , Catsman - Berrevoets, C, Coo, IFM, Aarsen, F, Kamphoven, J, Huijmans, J, Duran, M, van der Knaap, MS, Jakobs, C & 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. 132A, no. 3, pp. 288-295.

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated dutch families. / Verheijen - Mancini, Grazia ; Catsman - Berrevoets, Coriene; Coo, IFM et al.
In: American Journal of Medical Genetics Part A, Vol. 132A, No. 3, 2005, p. 288-295.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

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

AU - Verheijen - Mancini, Grazia

AU - Catsman - Berrevoets, Coriene

AU - Coo, IFM

AU - Aarsen, Femke

AU - Kamphoven, Jozef

AU - Huijmans, Jan

AU - Duran, M (Mercedes)

AU - van der Knaap, MS

AU - Jakobs, C

AU - Salomons, GS

PY - 2005

Y1 - 2005

M3 - Article

SN - 1552-4825

VL - 132A

SP - 288

EP - 295

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 3

ER -