Associated Papers
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL et al.
European Journal of Human Genetics : Ejhg, 2021
33707627 (PubMed )
Supplement: 41431_2020_805_MOESM1_ESM.docx
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria.
Ikeda H et al.
Cen Case Reports, 2016
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
Ikeda H et al.
Hinyokika Kiyo. Acta Urologica Japonica, 2012
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
Ikeda H et al.
Hinyokika Kiyo. Acta Urologica Japonica, 2011
Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines.
Phear G et al.
Molecular and Cellular Biology, 1996
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