Associated Papers
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
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.
Yamada Y et al.
Human Molecular Genetics, 1994
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