Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
β Scribed by S. Russo; M. Marchi; F. Cogliati; M. T. Bonati; M. Pintaudi; E. Veneselli; V. Saletti; M. Balestrini; B. Ben-Zeev; L. Larizza
- Book ID
- 106257273
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 497 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1364-6745
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π SIMILAR VOLUMES
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
Mutations in the DTDST gene can result in a family of skeletal dysplasia conditions which comprise two lethal disorders, achondrogenesis type 1B (ACG1B) and atelosteogenesis type 2 (AO2); and two non-lethal disorders, diastrophic dysplasia (DTD) and recessive multiple epiphyseal dysplasia (rMED). Th