Functional characterization of missense variants in the creatine transporter gene (SLC6A8): Improved diagnostic application

Human Mutation

Volumn 28, Issue 9, 2007, Pages 890-896

  Rosenberg, Efraim H ^a   Muñoz, Cristina Martínez ^a   Betsalel, Ofir T ^a   Van Dooren, Silvy J M ^a   Fernandez, Matilde ^a   Jakobs, Cornelis ^a   DeGrauw, Ton J ^b   Kleefstra, Tjitske ^c   Schwartz, Charles E ^d   Salomons, Gajja S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d GREENWOOD GENETIC CENTER   (United States)

Author keywords

Creatine transporter; Diagnostic; Mental retardation; Site directed mutagenesis; SLC6A8; Solute carrier

Indexed keywords

ARGININE; ASPARAGINE; CARRIER PROTEIN; COMPLEMENTARY DNA; CREATINE; CREATINE TRANSPORTER; CYSTEINE; GLYCINE; ISOLEUCINE; LEUCINE; METHIONINE; PHENYLALANINE; PROLINE; TYROSINE; UNCLASSIFIED DRUG; VALINE; ENHANCED GREEN FLUORESCENT PROTEIN; GREEN FLUORESCENT PROTEIN; HYBRID PROTEIN; NERVE PROTEIN; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORTER; SLC6A8 PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FIBROBLAST; GENE; GENE SEQUENCE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MENTAL DEFICIENCY; MISSENSE MUTATION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; SLC6A8 GENE; X CHROMOSOME LINKED DISORDER; ALGORITHM; CELL CULTURE; EVALUATION; GENETICS; MASS FRAGMENTOGRAPHY; METHODOLOGY; RADIOISOTOPE DIAGNOSIS; REFERENCE VALUE; X LINKED MENTAL RETARDATION;

ALGORITHMS; CELLS, CULTURED; CREATINE; DIAGNOSTIC TECHNIQUES, RADIOISOTOPE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GREEN FLUORESCENT PROTEINS; HUMANS; MENTAL RETARDATION, X-LINKED; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; RECOMBINANT FUSION PROTEINS; REFERENCE VALUES; TRANSFECTION;

EID: 34848909017     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20532     Document Type: Article

References (20)

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