Anthony O Fedele
Affiliation: University of Adelaide
- A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genesRossella De Cegli
Telethon Institute of Genetics and Medicine, Via P, Castellino 111, Napoli, 80131, Italy
Genome Biol 11:R64. 2010..Dosage imbalance is responsible for several genetic diseases, among which Down syndrome is caused by the trisomy of human chromosome 21...
- Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)Anthony O Fedele
Lysosomal Diseases Research Unit LDRU, SA Pathology, North Adelaide, Australia
Hum Mutat 31:E1574-86. 2010..1843G>A (p.A615T), which independently has a negligible effect on HGSNAT expression. This report suggests that these may function together to abolish HGSNAT activity...