Associated Papers
The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.
Baker HA et al.
Journal of Cell Science, 2025
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.
Yamada Y et al.
Human Mutation, 2001
Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency.
Yamada Y et al.
Advances in Experimental Medicine and Biology, 2000
Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.
Yamada Y et al.
Advances in Experimental Medicine and Biology, 1998
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