Kanzaki disease (OMIM#104170) is attributable to a deficiency in α-N-acetylgalactosaminidase (α-NAGA; E.C.184.108.40.206), which hydrolyzes GalNAcα1-O-Ser/Thr. Missense mutations, R329W or R329Q were identified in two Japanese Kanzaki patients. Although they are on the same codon, the clinical manifestation was more severe in R329W because an amino acid substitution led to protein instability resulting...
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