Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency
Open Access
- 11 October 1990
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 18 (19) , 5915-5916
- https://doi.org/10.1093/nar/18.19.5915
Abstract
Amrik Sahota, Ju Chen, Kazuhiro Asaki, Hideo Takeuchi, Peter J. Stambrook, Jay A. Tischfield; Identification of a common nonsense mutation in Japanese patientsKeywords
This publication has 3 references indexed in Scilit:
- Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.Journal of Clinical Investigation, 1988
- Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.Journal of Clinical Investigation, 1987
- Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficienciesHuman Genetics, 1987