Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.
Thi T N NguyenChi D VuNgoc L NguyenThi T H NguyenNgoc K NguyenNguyen Huy HoangPublished in: Molecular genetics & genomic medicine (2020)
We have identified novel pathogenic variants in the MSUD-related genes in the pedigree of the three patient's families. Our findings expand the mutational spectrum of MSUD and provide the scientific basis for genetic counseling for the patient's families.