Molecular analysis of vietnamese patients with mucopolysaccharidosis type i
Journal
Life
Journal Volume
11
Journal Issue
11
Pages
1162
Date Issued
2021
Author(s)
Abstract
gene (c.1190-10C>A (Intronic), c.1046A>G (p.Asp349Gly), c.1862G>C (p.Arg621Pro) were identified. The c.1190-10C>A variant represents six of the ten disease alleles, indicating a founder effect for MPS I in the Vietnamese population. Using biochemical and genetic analyses, the precise incidence of MPS I in this population should accelerate early diagnosis, newborn screening, prognosis, and optimal treatment.
SDGs
Publisher
MDPI
Type
journal article