A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene
✍ Scribed by Patricia Alcaide; Pilar Rodriguez-Pombo; Pedro Ruiz-Sala; Isaac Ferrer; Pedro Castro; Yolanda Ruiz Martin; Begoña Merinero; Magdalena Ugarte
- Book ID
- 111131290
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 379 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0012-1622
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1. Figure 2 reports a deletion 933 del T. This should be corrected to 933-934 del CT (compare with Table 1, where mutation is reported correctly). 1 and Figure 2 report a mutation 430C>A (Q135R). This should be corrected to 430C>A (Q135K), as lysine, not arginine, is the codon resulting from the mut
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