title: Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency.
authors.affiliation: Department of Pediatrics, Hokkaido University Graduate School of Medicine Department of Pediatrics, KKR Sapporo Medical Center, Sapporo, Japan. okura@med.hokudai.ac.jp
authors.forename: Yuka
authors.initials: Y
authors.lastname: Okura
authors.forename: Masafumi
authors.initials: M
authors.lastname: Yamada
authors.forename: Shunichiro
authors.initials: S
authors.lastname: Takezaki
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Nawate
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Miyuki
authors.initials: M
authors.lastname: Kida
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Kawamura
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ariga
mesh_terms: D002675:Child, Preschool; D018389:Codon, Nonsense; D003176:Complement C3 / Q000032:analysis / Q000172:deficiency* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D003176:Complement C3; D022821:RNA Splice Sites