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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia

Fig. 2

ARSA gene mutations of our patients. a Patient 1 has ARSA mutations of p.A316D and p.W320X. b Patient 2 has ARSA mutations of p.F249S, c.1344_1345 dupC, and an additional pseudodeficiency allele of p.N352S. c Patient 3 has ARSA mutations of p.Q176X and p.R293X. d Patient 4 has ARSA mutations of p.G101V and c.749 insGCGGGCCA. e Patient 5 has ARSA mutations of p.G101V and p.G303R

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172