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EnglishWe identified a novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease, changing a conserved aspartic acid to glycine at position 494 of the Hex beta-subunit; moreover, RT-PCR showed aberrant exon 12 skipping, causing a frame-shift and premature stop codon, consequent to the disruption of an exonic splicing enhancer motif by the mutation. These data suggest that the c.1556 A>G transition would affect both HEXB mRNA processing and biochemical properties of the beta-subunit.
Silvestri, G., Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect., <<MOLECULAR GENETICS AND METABOLISM>>, 2007; (1): 111-114 [http://hdl.handle.net/10807/129688]
| Autori: | |
| Titolo: | Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. |
| Data di pubblicazione: | 2007 |
| Abstract: | We identified a novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease, changing a conserved aspartic acid to glycine at position 494 of the Hex beta-subunit; moreover, RT-PCR showed aberrant exon 12 skipping, causing a frame-shift and premature stop codon, consequent to the disruption of an exonic splicing enhancer motif by the mutation. These data suggest that the c.1556 A>G transition would affect both HEXB mRNA processing and biochemical properties of the beta-subunit. |
| Lingua: | Inglese |
| Rivista: | |
| Citazione: | Silvestri, G., Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect., <<MOLECULAR GENETICS AND METABOLISM>>, 2007; (1): 111-114 [http://hdl.handle.net/10807/129688] |
| Appare nelle tipologie: | Articolo in rivista, Nota a sentenza |
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