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Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency. 2011

Yuka Okura, and Masafumi Yamada, and Shunichiro Takezaki, and Mitsuru Nawate, and Yutaka Takahashi, and Miyuki Kida, and Nobuaki Kawamura, and Tadashi Ariga
Department of Pediatrics, Hokkaido University Graduate School of Medicine Department of Pediatrics, KKR Sapporo Medical Center, Sapporo, Japan. okura@med.hokudai.ac.jp

UI MeSH Term Description Entries
D008297 Male Males
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003176 Complement C3 A glycoprotein that is central in both the classical and the alternative pathway of COMPLEMENT ACTIVATION. C3 can be cleaved into COMPLEMENT C3A and COMPLEMENT C3B, spontaneously at low level or by C3 CONVERTASE at high level. The smaller fragment C3a is an ANAPHYLATOXIN and mediator of local inflammatory process. The larger fragment C3b binds with C3 convertase to form C5 convertase. C3 Complement,C3 Precursor,Complement 3,Complement C3 Precursor,Complement Component 3,Precursor-Complement 3,Pro-C3,Pro-Complement 3,C3 Precursor, Complement,C3, Complement,Complement, C3,Component 3, Complement,Precursor Complement 3,Precursor, C3,Precursor, Complement C3,Pro C3,Pro Complement 3
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017422 Sequence Analysis, DNA A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis. DNA Sequence Analysis,Sequence Determination, DNA,Analysis, DNA Sequence,DNA Sequence Determination,DNA Sequence Determinations,DNA Sequencing,Determination, DNA Sequence,Determinations, DNA Sequence,Sequence Determinations, DNA,Analyses, DNA Sequence,DNA Sequence Analyses,Sequence Analyses, DNA,Sequencing, DNA
D018389 Codon, Nonsense An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. Codon, Termination, Premature,Codon, Unassigned,Mutation, Nonsense,Nonsense Codon,Nonsense Mutation,Premature Stop Codon,Unassigned Codon,Amber Nonsense Codon,Amber Nonsense Mutation,Nonsense Codon, Amber,Ochre Nonsense Codon,Ochre Nonsense Mutation,Opal Nonsense Codon,Opal Nonsense Mutation,Premature Termination Codon,Amber Nonsense Codons,Amber Nonsense Mutations,Codon, Amber Nonsense,Codon, Ochre Nonsense,Codon, Opal Nonsense,Codon, Premature Stop,Codon, Premature Termination,Codons, Amber Nonsense,Codons, Nonsense,Codons, Ochre Nonsense,Codons, Opal Nonsense,Codons, Premature Stop,Codons, Premature Termination,Codons, Unassigned,Mutation, Amber Nonsense,Mutation, Ochre Nonsense,Mutation, Opal Nonsense,Mutations, Amber Nonsense,Mutations, Nonsense,Mutations, Ochre Nonsense,Mutations, Opal Nonsense,Nonsense Codon, Ochre,Nonsense Codon, Opal,Nonsense Codons,Nonsense Codons, Amber,Nonsense Codons, Ochre,Nonsense Codons, Opal,Nonsense Mutation, Amber,Nonsense Mutation, Ochre,Nonsense Mutation, Opal,Nonsense Mutations,Nonsense Mutations, Amber,Nonsense Mutations, Ochre,Nonsense Mutations, Opal,Ochre Nonsense Codons,Ochre Nonsense Mutations,Opal Nonsense Codons,Opal Nonsense Mutations,Premature Stop Codons,Premature Termination Codons,Stop Codon, Premature,Stop Codons, Premature,Termination Codon, Premature,Termination Codons, Premature,Unassigned Codons

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