Associated Papers
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg EH et al.
Human Mutation, 2007
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Clark AJ et al.
Human Genetics, 2006
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Rosenberg EH et al.
American Journal of Human Genetics, 2004
Select a paper to view details