Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
Betsalel, Ofir T
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. [electronic resource] - Molecular genetics and metabolism Apr 2012 - 596-601 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2011.12.022 doi
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
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. [electronic resource] - Molecular genetics and metabolism Apr 2012 - 596-601 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2011.12.022 doi
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