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

Autor:	Verheijen - Mancini, Grazia, Catsman - Berrevoets, Coriene, Coo, IFM, Aarsen, Femke, Kamphoven, Jozef, Huijmans, Jan, Duran, M (Marinus), van der Knaap, MS, Jakobs, C, Salomons, GS
Přispěvatelé:	Cell biology, Neurology, Pediatrics, General Practice, Clinical Genetics, Pediatric Surgery
Rok vydání:	2005
Zdroj:	American Journal of Medical Genetics Part A, 132A(3), 288-295. Wiley-Liss Inc. American Journal of Medical Genetics, 22, 288-295. Wiley-Liss Inc.
ISSN:	1552-4825 0148-7299
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a6eecd6b3af3c2dcd33631bab3844e92 https://pure.eur.nl/en/publications/f862cec2-8148-4df3-a690-150251e6bd35 Zobrazit plný text záznamu Plný text