X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. [electronic resource]
Producer: 20020523Description: 1349-56 p. digitalISSN:- 0002-9297
- Adolescent
- Adult
- Aged
- Alternative Splicing -- genetics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Female
- Genetic Linkage -- genetics
- Heterozygote
- Humans
- Intellectual Disability -- complications
- Introns -- genetics
- Male
- Membrane Transport Proteins -- genetics
- Middle Aged
- Molecular Sequence Data
- Mutation -- genetics
- Pedigree
- Seizures -- complications
- X Chromosome -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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