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72 results
  1. 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 ... HM, Zafeiriou DI, Moraitou MS, Gootjes J, Wanders RJ. PEX1 deficiency presenting as ...
  2. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... Watkins D, Rosenblatt DS, Gravel RA. Homozygous nonsense mutation in the MCEE gene and siRNA ... group of vitamin B12-dependent methylmalonic aciduria. Hum Mol ...
  3. 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 ...
  4. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... W, Mathew CG, Joenje H, Sperling K, Digweed M. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000; 8 : ... M, Finegold MJ, Jones SN, Meyn MS, Grompe M. Epithelial cancer in Fanconi anemia complementation ... Genes Dev. 2003; 17 :2021–35. [ PMC free article : ...
  5. 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 ...
  6. 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 ...
  7. MOCS1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mocs1
    ... form of the disorder designated type A or complementation group A. This is the most common form of the condition, accounting for approximately two-thirds of cases. The MOCS1 gene mutations involved in molybdenum cofactor deficiency likely eliminate the ...
  8. MMAB gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mmab
    ... CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol ...
  9. NSDHL-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51754
    ... Q, Cunningham D, Peters J, Cattanach B, Bard M, Elmore BK, Herman GE. Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. Mol Genet Metab. 2003; 80 : ...
  10. ERCC6 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ercc6
    ... syndrome. Additionally, it is unknown why the Arg77Ter mutation causes photosensitivity without the other ... (yeast) homolog Additional Information & Resources ...
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