The two mutant alleles annotated here are associated with near-complete loss of enzyme activity and early onset of disease (Hermans et al. 1991; Zhong et al. 1991). Many other mutant alleles have been described and their residual activities correlated with disease presentation (e.g., Kroos et al. 2012).
Tinkle, BT, Leslie, N
Hers, HG
Kroos, MA, Reuser, AJ, Hermans, MM, Oostra, BA, de Graaff, E, Wisselaar, HA
Tzall, S, Zhong, N, Hirschhorn, R, Martiniuk, F
Kroos, MA, Reuser, AJ, Pomponio, RJ, Halley, DJ, Michelakakis, H, Van der Ploeg, AT, Hoogeveen-Westerveld, M
Brown, BI, Jeffrey, PL, Brown, DH
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