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Volumn 70, Issue 5, 2002, Pages 1349-1356

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

(11) Hahn, Kimberly A a,b Tackels Horne, Darci a Wood, Tim C a Taylor, Harold A a Schroer, Richard J a Lubs, Herbert A c Jakobs, Cornelis a,b Olson, Rick L a Holden, Kenton R a Stevenson, Roger E a Schwartz, Charles E a

a GREENWOOD GENETIC CENTER (United States)

b VU UNIVERSITY MEDICAL CENTER (Netherlands)

c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CREATINE; CREATININE; GLYCINE;

ADOLESCENT; ADULT; AGED; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; BEHAVIOR DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE TRANSPORTER GENE; CREATININE CLEARANCE; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; FIBROBLAST; GENE LOCATION; GENE MUTATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; LEARNING DISORDER; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; RELATIVE; SEIZURE; SLC6A8 GENE; SPEECH DISORDER; X CHROMOSOMAL INHERITANCE;

EID: 18344367230 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: 10.1086/340092 Document Type: Article

Times cited : (107)

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