TY  - GEN
AU  - Hahn,Kimberly A
AU  - Salomons,Gajja S
AU  - Tackels-Horne,Darci
AU  - Wood,Tim C
AU  - Taylor,Harold A
AU  - Schroer,Richard J
AU  - Lubs,Herbert A
AU  - Jakobs,Cornelis
AU  - Olson,Rick L
AU  - Holden,Kenton R
AU  - Stevenson,Roger E
AU  - Schwartz,Charles E
TI  - X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
SN  - 0002-9297
PY  - 2002///0523
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Alternative Splicing
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Linkage
KW  - Heterozygote
KW  - Humans
KW  - Intellectual Disability
KW  - complications
KW  - Introns
KW  - Male
KW  - Membrane Transport Proteins
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Seizures
KW  - X Chromosome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/340092
ER  -