Clinical features and X-inactivation in females heterozygous for creatine transporter defect
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01460.x/fullpdf
Reference37 articles.
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3. Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening;Arias;Clin Biochem,2007
4. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology;Clark;Hum Genet,2006
5. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation;Lion-Francois;Neurology,2006
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