RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

Nota, Benjamin

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix. [electronic resource] - Human mutation Sep 2014 - 1128-35 p. digital

Publication Type: Journal Article

1098-1004

10.1002/humu.22609 doi


Brain Diseases, Metabolic, Inborn--genetics
Cell Line
Creatine--deficiency
Extracellular Matrix--metabolism
Fibroblasts--metabolism
Gene Expression Profiling
Gene Expression Regulation
Humans
Male
Membrane Transport Proteins--genetics
X-Linked Intellectual Disability--genetics
Mutation
Plasma Membrane Neurotransmitter Transport Proteins--deficiency
Sequence Analysis, RNA
Synapses--genetics