Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis

  • Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1141-5. doi: 10.1081/NCN-200027393.
Atsuo Taniguchi  1 ,  Sanae Tsuchida ,  Shin-Ichi Kuno ,  Masayuki Mita ,  Tastuya Machida ,  Naomasa Ioritani ,  Chihiro Terai ,  Hisashi Yamanaka ,  Naoyuki Kamatani
Affiliations
  • 1. Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan.
PMID: 15571218 DOI: 10.1081/NCN-200027393
Abstract

Five mutations in the Adenine phosphoribosyltransferase (APRT) gene have been described in Japanese patients with APRT deficiency. We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined.