FIGURE

Figure 1

ID

ZDB-FIG-220430-97

Publication

Yan et al., 2022 - Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy

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Figure 1

Figure 1. Sanger sequencing of two HLD pedigrees and representative MRI of Patient 2 with the TMEM163-L76P mutation. (A,B) De novo heterozygous c.227T>G p.(L76R) and c.227T>C p.(L76P) in TMEM163 was identified in two probands, respectively. I, parents; II, progeny. (C) Diffuse hypo-intense signal on T2-weighted images at 4 months and 13 months indicated hypomyelination in cerebral white matter (C). WT, wild type.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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