Figure 2 | Genetics in Medicine

Figure 2

From: A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies

Figure 2

Time course experiments for selected alleles. (a) G57S; (b) G73S, G137A, T306A; (c) G391R, G355S, T409M; (d) G434S and A463T show negligible activity over time compared with wtARSE. The Y axis represents 4-methylumbelliferyl-fluorescence (1.0s) (counts). Error bars represent the SD of the measurements. Experiments represent three independent replications. ARSE, arylsulfatase E; wtARSE, wild-type ARSE.

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