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

Volumn 132 A, Issue 3, 2005, Pages 288-295

  Mancini, G M S ^a,d   Catsman Berrevoets, C E ^a   De Coo, I F M ^a   Aarsen, F K ^a   Kamphoven, J H J ^a   Huijmans, J G ^a   Duran, M ^b   Van Der Knaap, M S ^c   Jakobs, C ^c   Salomons, G S ^c  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Creatine; Oral dyspraxia; Semantic pragmatic language disorder; SLC6A8; Transporter; X linked

Indexed keywords

CREATININE; GUANIDINOACETIC ACID; METHYLPHENIDATE; VALPROIC ACID;

ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CONFERENCE PAPER; CONTROLLED STUDY; CREATININE URINE LEVEL; DNA SEQUENCE; DONOR SITE; DYSPRAXIA; EPILEPSY; FACIES; FIBROBLAST; GROWTH RETARDATION; HUMAN; IMPULSIVENESS; LANGUAGE DISABILITY; MALE; MISSENSE MUTATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; URINALYSIS; X LINKED MENTAL RETARDATION;

BASE SEQUENCE; BRAIN; CELLS, CULTURED; CHILD; CREATINE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FIBROBLASTS; GLYCINE; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MEMBRANE TRANSPORT PROTEINS; MENTAL RETARDATION, X-LINKED; MUTATION; NETHERLANDS; SKIN;

EID: 19944427684     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30473     Document Type: Conference Paper

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