X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Human Genetics

Volumn 119, Issue 6, 2006, Pages 604-610

  Clark, Amy J ^a   Rosenberg, Efraim H ^b   Almeida, Ligia S ^b   Wood, Tim C ^b   Jakobs, Cornelis ^b   Stevenson, Roger E ^a   Schwartz, Charles E ^a   Salomons, Gajja S ^b  

^a GREENWOOD GENETIC CENTER   (United States)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Creatine transporter; Non fragile X MR; X linked mental retardation

Indexed keywords

CARRIER PROTEIN; CREATINE; CREATININE; GENOMIC DNA; PROTEIN SLC6A8; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CONTROLLED STUDY; CREATININE URINE LEVEL; DNA SEQUENCE; DNA SPLICING; EXON; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SEQUENCE ANALYSIS; X LINKED MENTAL RETARDATION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; NERVE TISSUE PROTEINS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; SEQUENCE DELETION;

EID: 33744473608     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0162-9     Document Type: Article

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