Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome.
Mizunuma
M
M
Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan.
Fujimori
S
S
Kaneko
K
K
Kamatani
N
N
D020087:Alu Elements; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007564:Japan; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics; D011995:Recombination, Genetic
D007041:Hypoxanthine Phosphoribosyltransferase