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68 results
  1. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or ... Gene 1, 2 Complementation Group 3 % of FA Attributed to Pathogenic Variants in ...
  2. MOCS2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mocs2
    ... form of the disorder designated type B or complementation group B. The MOCS2 gene mutations involved in molybdenum cofactor deficiency likely eliminate the ...
  3. Fanconi anemia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/fanconi-anemia
    ... Disorders (NORD) Clinical Trials ClinicalTrials.gov Catalog of Genes and Diseases from OMIM FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB FANCONI ...
  4. pdf2018NewHeadingsSingleColumn508.pdf 
    https://www.nlm.nih.gov/.../2018NewHeadingsSingleColumn508.pdf
    ... and stabilize these proteins at homologous recombination sites. Mutations in the PALB2 gene are associated with FANCONI ANEMIA complementation group N; type 3 PANCREATIC NEOPLASMS; and susceptibility to ...
  5. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... Moser HW, Suzuki Y, Kondo N, Fujiki Y. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J ...
  6. Molybdenum cofactor deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency
    ... disorder, named types A, B, and C (or complementation groups A, B, and C). The forms have the same signs and symptoms but are distinguished by their genetic cause: MOCS1 gene mutations cause type A, MOCS2 gene mutations cause type ...
  7. GPHN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gphn
    ... form of the disorder designated type C or complementation group C. This is the rarest form of the condition, affecting only a small number of individuals. The GPHN gene mutations involved in molybdenum cofactor deficiency likely reduce or ...
  8. Xeroderma pigmentosum: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum
    ... Disorders (NORD) Clinical Trials ClinicalTrials.gov ... PIGMENTOSUM, VARIANT TYPE; XPV XERODERMA PIGMENTOSUM, COMPLEMENTATION ...
  9. NLM Digital Collections - Report to the Medical Research Council on the Work of the Division of Molecular Genetics, now ... 
    Publication: Produced: November 1971
    resource.nlm.nih.gov/101584582X71
    ... theory which explains rather well the paucity of complementation groups in this and other organisms. We know that some single gene mutations can produce profound changes in the organisation of ...
  10. ERCC8 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ercc8
    ... syndrome. Additionally, it is unknown why the Trp361Cys mutation causes photosensitivity without the ... group 8 excision repair cross-complementing rodent repair deficiency, ...
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