ena-STUDY-university de monastir-12-10-2017-11:22:03:096-19
A novel splice site mutation in IDUA genen
We have identified a novel c.1650 + 1G> T splicing mutation in patients with mucopolysacchariodosis type I. This variant affects the essential nucleotide +1 (G to T) of the donor splice site of IDUA intron11 of IDUA gene.
We have identified a novel c.1650 + 1G> T splicing mutation in patients with mucopolysacchariodosis type I. This variant affects the essential nucleotide +1 (G to T) of the donor splice site of IDUA intron11 of IDUA gene.