TY  - GEN
AU  - Betsalel,Ofir T
AU  - Pop,Ana
AU  - Rosenberg,Efraim H
AU  - Fernandez-Ojeda,Matilde
AU  - Jakobs,Cornelis
AU  - Salomons,Gajja S
TI  - Detection of variants in SLC6A8 and functional analysis of unclassified missense variants
SN  - 1096-7206
PY  - 2012///0716
KW  - Blotting, Western
KW  - Cells, Cultured
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fibroblasts
KW  - cytology
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - diagnosis
KW  - Mutagenesis, Site-Directed
KW  - Mutation, Missense
KW  - genetics
KW  - Nerve Tissue Proteins
KW  - Plasma Membrane Neurotransmitter Transport Proteins
KW  - Real-Time Polymerase Chain Reaction
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2011.12.022
ER  -