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225 results
  1. Genetic Atypical Hemolytic-Uremic Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1367
    ... C3 convertase (C3bBb), or by pathogenic variants in complement genes. C3Nefs are found in 60%-70% of individuals ... E, Remuzzi G, Noris M, et al. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical ...
  2. C3 glomerulopathy: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/c3-glomerulopathy
    ... LM, Zhang Y, Smith RJ. Allelic variants of complement genes associated with dense deposit disease. J Am Soc ... M, Pickering M, Smith R. The role of complement in C3 glomerulopathy. Mol Immunol. 2015 Sep;67(1):21-30. doi: ... of a genetic condition? How can gene variants affect health and development? What does it ...
  3. CFHR5 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cfhr5
    ... PF, Hageman GS, Smith RJ. Variations in the complement regulatory genes factor H (CFH) and factor H related 5 ( ...
  4. C8A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/c8a
    ... About This Health Condition Other Names for This Gene complement component 8 alpha subunit complement component 8 subunit ... PubMed Catalog of Genes and Diseases from OMIM COMPLEMENT COMPONENT 8, ALPHA SUBUNIT; C8A Gene and Variant Databases NCBI Gene ClinVar References Bubeck ...
  5. CFH gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cfh
    ... PF, Hageman GS, Smith RJ. Variations in the complement regulatory genes factor H (CFH) and factor H related 5 ( ... J, Weleber RG, Klein ML. Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular ...
  6. MASP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/masp1
    ... H, Alkuraya FS, Beales PL. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. ...
  7. C8B gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/c8b
    ... About This Health Condition Other Names for This Gene C82 complement component 8 subunit beta complement component 8, beta ... PubMed Catalog of Genes and Diseases from OMIM COMPLEMENT COMPONENT 8, BETA SUBUNIT; C8B Gene and Variant Databases NCBI Gene ClinVar References Bubeck ...
  8. C2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/c2
    ... PubMed Catalog of Genes and Diseases from OMIM COMPLEMENT COMPONENT 2; C2 Gene and Variant Databases NCBI Gene ClinVar References Halili ...
  9. CFI gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cfi
    ... PubMed Catalog of Genes and Diseases from OMIM COMPLEMENT FACTOR I; CFI Gene and Variant Databases NCBI Gene ClinVar References Baracho ... P, Athanassiou P, Giles CM, Walport MJ. Hereditary complement factor I deficiency. QJM. 1994 Jul;87(7):385-401. Citation on PubMed ... CFI gene is found on chromosome 4 . Related Health Topics ...
  10. 3MC syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/3mc-syndrome
    ... H, Alkuraya FS, Beales PL. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. ...
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