Literature DB >> 1977137

Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.

A Sahota1, J Chen, K Asaki, H Takeuchi, P J Stambrook, J A Tischfield.   

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Year:  1990        PMID： 1977137      PMCID： PMC332361          DOI： 10.1093/nar/18.19.5915

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  4 in total

1.  Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.

Authors:  Y Hidaka; S A Tarlé; S Fujimori; N Kamatani; W N Kelley; T D Palella
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

2.  Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants.

Authors:  P J Stambrook; M K Dush; J J Trill; J A Tischfield
Journal:  Somat Cell Mol Genet       Date:  1984-07

3.  Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

Authors:  Y Hidaka; T D Palella; T E O'Toole; S A Tarlé; W N Kelley
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

4.  Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.

Authors:  N Kamatani; C Terai; S Kuroshima; K Nishioka; K Mikanagi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132
  4 in total
  6 in total

1.  2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.

Authors:  A Sahota; J Chen; M A Behzadian; R Ravindra; H Takeuchi; P J Stambrook; J A Tischfield
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

2.  Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.

Authors:  N Kamatani; M Hakoda; S Otsuka; H Yoshikawa; S Kashiwazaki
Journal:  J Clin Invest       Date:  1992-07       Impact factor: 14.808

3.  Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.

Authors:  J Chen; A Sahota; T Laxdal; M Scrine; S Bowman; C Cui; P J Stambrook; J A Tischfield
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

4.  Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency.

Authors:  Y Kaneko; H Takeuchi; J Takenawa; H Nakayama; J Fujita; O Yoshida
Journal:  Urol Res       Date:  1993-03

5.  Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.

Authors:  Takuma Iwaki; Takashi Kusaka; Ikuko Ohashi; Tomoko Nishida; Tadashi Imai; Susumu Itoh
Journal:  Pediatr Nephrol       Date:  2010-01-26       Impact factor: 3.714

6.  Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.

Authors:  Rea Valaperta; Vittoria Rizzo; Fortunata Lombardi; Chiara Verdelli; Marco Piccoli; Andrea Ghiroldi; Pasquale Creo; Alessio Colombo; Massimiliano Valisi; Elisabetta Margiotta; Rossella Panella; Elena Costa
Journal:  BMC Nephrol       Date:  2014-07-01       Impact factor: 2.388
  6 in total

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