A novel compound heterozygote mutation in the ARSB gene in a patient with Maroteaux-Lamy syndrome and its Insilico evaluation

ConclusionThese findings implicate the compound heterozygote mutation in ARSB gene and could be important for prenatal diagnosis. This is the first study and the first compound heterozygote that we report in this region of Asia.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research