title: Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency.
authors: Department of Pediatric, Nihon University School of Medicine, Tokyo, Japan. match@tf6.so-net.ne.jp
authors: Masahiko
authors: M
authors: Tsuda
authors: Kenichi
authors: K
authors: Horinouchi
authors: Takeshi
authors: T
authors: Sakiyama
authors: Misao
authors: M
authors: Owada
mesh_terms: D002648:Child; D003545:Cysteine; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D020125:Mutation, Missense; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D014443:Tyrosine
chemical_list: D014443:Tyrosine; D011683:Purine-Nucleoside Phosphorylase; D003545:Cysteine