X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference16 articles.
1. Reversible brain creatine deficiency in two sisters with normal blood creatine level;Bianchi;Ann Neurol,2000
2. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?;Cecil;Ann Neurol,2001
3. Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD;Gregor;Genomics,1995
4. Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28;Iyer;Genomics,1996
5. Clinical chemistry: theory, analysis, and correlation,1989
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