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Fig. 1 | Molecular Medicine

Fig. 1

From: Glucocerebrosidase Mutations in Gaucher Disease

Fig. 1

The mutations of the glucocerebrosidase gene

At the right the deduced severity of each mutation is designated by the use of different type styles: lethal = underline; severe = bold; mild = normal. At the left, mutations of unknown severity are shown in italics. The cDNA number followed by the base that is found at that position in the mutant are shown next to the line. Within parentheses the amino acid change is shown, where applicable. cDNA numbers are assigned with the upstream ATG beginning with 1. Amino acid numbers are numbered beginning with the putative cleavage site of the leader sequence.

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