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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Acid ceramidase deficiency: Farber disease and SMA-PME

Fig. 3

Structure of the human ASAH1 gene with the protein and distribution of mutations. a ASAH1 genomic structure. b ASAH1 mature transcript structure. c Schematic of the ACDase protein with annotations for the signal peptide, α-subunit, and β-subunit. d Percentages of the reported 65 ASAH1 mutations by type for FD and SMA-PME. e Frequency of mutations by subunit and reported disease phenotype

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