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Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application [PDF]
Human Mutation, 2007 Contains fulltext : 53559.pdf (Publisher’s version ) (Closed access)Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene (SLC6A8).
Efraim Rosenberg, Charles Schwartz
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Human Mutation, 2014 Creatine transporter (SLC6A8) deficiency is the most common cause of cerebral creatine syndromes, and is characterized by depletion of creatine in the brain.
Benjamin Nota +2 more
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Detection of variants in SLC6A8 and functional analysis of unclassified missense variants
Molecular Genetics and Metabolism, 2012 Item does not contain fulltextCreatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported.
Ana Pop +2 more
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American Journal of Medical Genetics, Part A, 2007 We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual ...
Davide Mei +2 more
exaly +3 more sources
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency [PDF]
Neurogenetics, 2008 Contains fulltext : 69820.pdf (Publisher’s version ) (Open Access)Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene, SLC6A8.
Efraim Rosenberg +2 more
exaly +2 more sources
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Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene
Neurology and Clinical Neuroscience, 2023Betul Turan
exaly