Associated Papers
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Pharmacogenetics of thiopurines for inflammatory bowel disease in East Asia: prospects for clinical application of NUDT15 genotyping.
Kakuta Y et al.
Journal of Gastroenterology, 2018
Splicing mutations at the HPRT locus in human T-lymphocytes in vivo.
Osterholm AM et al.
Environmental and Molecular Mutagenesis, 1998
Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Gathof BS et al.
Human Mutation, 1996
International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo.
Cole J et al.
Mutation Research, 1994
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