Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree

ConclusionsA novel compound heterozygousIDUA mutation (c.1815dupT, p.V606Cfs51*) was found in a Chinese MPS I family. The identification of the mutation facilitated accurate genetic counseling and precise medical intervention for MPS I in China.

Source: Molecular Genetics & Genomic Medicine - November 22, 2019 Category: Genetics & Stem Cells Authors: Yong ‐An Zhou, Ping Li, Yanping Zhang, Qiuhong Xiong, Chao Li, Zhonghua Zhao, Yuxian Wang, Han Xiao Tags: CLINICAL REPORT Source Type: research