Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. [electronic resource]
Producer: 20120716Description: 596-601 p. digitalISSN:- 1096-7206
- Blotting, Western
- Cells, Cultured
- DNA Mutational Analysis
- Female
- Fibroblasts -- cytology
- Heterozygote
- Humans
- Male
- X-Linked Intellectual Disability -- diagnosis
- Mutagenesis, Site-Directed
- Mutation, Missense -- genetics
- Nerve Tissue Proteins -- genetics
- Plasma Membrane Neurotransmitter Transport Proteins -- genetics
- Real-Time Polymerase Chain Reaction
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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