Associated Papers
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.
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Computational and Structural Biotechnology Journal, 2021
34194672 (PubMed )
Supplement: mmc1.xlsx › S3
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.
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Advances in Experimental Medicine and Biology, 1998
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.
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Human Molecular Genetics, 1994
Gene mutations for human erythrocyte AMP deaminase deficiency.
Yamada Y et al.
Advances in Experimental Medicine and Biology, 1994
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