• Mutation; HGNC; HGNC:626; APRT; Simple; p.Met136Thr (c.407T>C); ClinVar=VCV000018296; Zygosity=Homozygous; Note=APRT*J allele (PubMed=3343350; PubMed=3488062).
  

PubMed=3488062; DOI=10.1016/0006-291X(86)90324-4
Tsutomu Nobori, Naoyuki Kamatani, Kiyonobu Mikanagi, Yutaro Nishida, Kusuki Nishioka;
Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies.
Biochem. Biophys. Res. Commun. 137:998-1005(1986)

PubMed=3343350; DOI=10.1172/JCI113408; PMCID=PMC442550
Yuji Hidaka, Susan A. Tarle, Shin Fujimori, Naoyuki Kamatani, William Nimmons Kelley, Thomas D. Palella;
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
J. Clin. Invest. 81:945-950(1988)

PubMed=2502918; PMCID=PMC1683345
Naoyuki Kamatani, Shoko Kuroshima, Chihiro Terai, Yuji Hidaka, Thomas D. Palella, Kusuki Nishioka;
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
Am. J. Hum. Genet. 45:325-331(1989)