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Fig. 5 | BMC Medical Genomics

Fig. 5

From: The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis

Fig. 5

Modelling of the wild-type and mutant-type protein of GPI. (a, b) Three-dimension (3D) structure of the GPI protein. Residue 87 is marked in red and the G87C is marked in blue. (c, d) A 3D structure showing before and after mutation of residue 87 (G87C) in a cartoon format. The wild-type and mutant-type proteins are coloured red and blue, respectively; the mutant G87C protein reveals the steric hindrance

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BMC Medical Genomics

ISSN: 1755-8794

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