Hereditary amyloid polyneuropathy
Feb. 04, 2023
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Schematic of the acid ceramidase protein with indications of the corresponding numbers of mutations for each part. Annotations are shown for the signal peptide, alpha-subunit, and beta-subunit. (Source: Yu FP, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 2018;13(1):121. Creative Commons Attribution 4.0 International License. http://creativecommons.org/licenses/by/4.0.)