Shoko Kuroshima

Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies

Naoyuki Kamatani, Chihiro Terai, Shoko Kuroshima et al. · Human Genetics · 1987 · 79 citations

Genetic Testing, Adenine Phosphoribosyltransferase Deficiencies, Genetic Disorder +8

Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation

Naoyuki Kamatani, Shoko Kuroshima, Masayuki Hakoda et al. · Human Genetics · 1990 · 23 citations

Short Dna Sequence, Genetics, Evolutionary Biology +9

Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis

Naoyuki Kamatani, Shoko Kuroshima, Hisashi Yamanaka et al. · Human Genetics · 1990 · 14 citations

Biosynthesis, Urology, Adenine Phosphoribosyltransferase Deficiency +7

Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.

Naoyuki Kamatani, Shoko Kuroshima, Chihiro Terai et al. · PubMed · 1989 · 14 citations

Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants)

Naoyuki Kamatani, Shoko Kuroshima, Chihiro Terai et al. · Human Genetics · 1987 · 13 citations

Human Cell, Somatic Variant, Individual Cells +11