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Sanger sequencing analysis of the genomic DNA from indicated patients. The gene mutation is shown by black arrow. The c.T1037G (p.L346R) mutation of IDUA in exon 8 was detected in I‐1, II‐2, and II‐4. The novel heterozygous single base insertion (c.1815dupT, p.V606Cfs51*) in exon 13 of IDUA was detected in II‐2, II‐3, and II‐4
