A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein

Atsuo Taniguchi, Masayuki Hakoda, Hisashi Yamanaka, Chihiro Terai, Keiji Hikiji, Ryuji Kawaguchi, Noriko Konishi, Sadao Kashiwazaki, Naoyuki Kamatani

Human Genetics · 1998 · 17 citations · 28 references

Concepts

References

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