FIGURE

Fig. 5

ID

ZDB-FIG-231212-73

Publication

Liu et al., 2023 - Identification of an α-l-iduronidase (IDUA) M1T mutation in a Chinese family with autosomal recessive mucopolysaccharidosis I

Other Figures

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7
Fig. 8

All Figure Page

Back to All Figure Page

Fig. 5

Mutation analysis of IDUA in this pedigree. (A) Pedigree of the family. Proband is noted with black arrow. (B) DNA sequence chromatogram (forward strand) shows a homozygous T>C transition that causes a substitution of threonine for methionine at codon 1. The red arrow points to the position of the mutant nucleotide.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Ann N Y Acad Sci