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

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

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

Affiliation

Mancini GM; Department of Clinical Genetics, Erasmus University MC/Sophia Children's Hospital, Rotterdam, The Netherlands. g.mancini@erasmusmc.nl

Am J Med Genet A ; 132A(3): 288-95, 2005 Jan 30.

Article in En | MEDLINE | ID: mdl-15690373

Subject(s)

Glycine/analogs & derivatives; Membrane Transport Proteins/genetics; Mental Retardation, X-Linked/genetics; Mutation; Base Sequence; Brain/metabolism; Brain/pathology; Cells, Cultured; Child; Creatine/pharmacokinetics; Creatine/urine; DNA/chemistry; DNA/genetics; DNA Mutational Analysis; Family Health; Fibroblasts/metabolism; Glycine/urine; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Membrane Transport Proteins/metabolism; Mental Retardation, X-Linked/pathology; Netherlands; Skin/cytology; Skin/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Mental Retardation, X-Linked / Glycine / Mutation Limits: Child / Humans / Male Country/Region as subject: Europa Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2005 Type: Article Affiliation country: Netherlands

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