Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease

ConclusionsWe 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.

Source: Molecular Genetics & Genomic Medicine - June 8, 2020 Category: Genetics & Stem Cells Authors: Thi T. N. Nguyen, Chi D. Vu, Ngoc L. Nguyen, Thi T. H. Nguyen, Ngoc K. Nguyen, Huy H. Nguyen Tags: ORIGINAL ARTICLE Source Type: research