Copyright
©The Author(s) 2024.
World J Clin Cases. Jan 26, 2024; 12(3): 503-516
Published online Jan 26, 2024. doi: 10.12998/wjcc.v12.i3.503
Published online Jan 26, 2024. doi: 10.12998/wjcc.v12.i3.503
Table 3 Ubiquitin-protein ligase E3A polymorphisms detected in our group of clinically diagnosed Angelman syndrome patients. The nucleotide and codon positions refer to the complete ubiquitin-protein ligase E3A cDNA sequence
| Four common polymorphisms | New polymorphisms |
| c.2064+9T>C → rs79328837 (intro13) | c.2220+14T>C (intron14) |
| c.1713A>G → RS34670662 (exon 11) | c.30-47_30-46 insT (Exon7) |
| c.2221-40_2221-38delGTA, RS149854051 (intron 14) | c.2507+43T>A (Exon15) |
| c.486A>T; p.Ala162 =, RS28528079 (exon9A) |
- Citation: Manoubi W, Mahdouani M, Hmida D, Kdissa A, Rouissi A, Turki I, Gueddiche N, Soyah N, Saad A, Bouwkamp C, Elgersma Y, Mougou-Zerelli S, Gribaa M. Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome. World J Clin Cases 2024; 12(3): 503-516
- URL: https://www.wjgnet.com/2307-8960/full/v12/i3/503.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v12.i3.503