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11 results
  1. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... IN CHINESE HAMSTER, 2; XRCC2 600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE 602774 RAD51 PARALOG C; RAD51C 602956 FANCG GENE; FANCG 603467 FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF ...
  2. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... the total number of individuals belonging to this complementation group who underwent sequencing of that gene . 10. One PEX6 variant, c.2578C>T (p.Arg860Trp), has been associated with ...
  3. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on ...
  4. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 37 (9): ... and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell 8 (3): 255-65, ...
  5. Primary Coenzyme Q10 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK410087
    ... S, Feather S, Gilbert RD, Krischock L, Jones C, Sinha MD, Webb NJ, Christian M, Williams MM, Marks S, Koziell A, Welsh GI, Saleem MA., RADAR the UK SRNS Study Group. Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. Clin J ...
  6. NSDHL-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51754
    ... novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. Mol Genet Metab. 2003; 80 :227–33. [ PubMed : 14567972 ] McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, ...
  7. Warsaw Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541972
    ... et al 2006 ]. Human Fe-S helicase family genes are implicated in genetic disorders ... Fanconi anemia complementation group J Warsaw syndrome is classified as a ...
  8. Mucolipidosis IV - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1214
    ... RO, Schiffmann R. Mucolipidosis IV consists of one complementation group. Proc Natl Acad Sci U S A. 1999; ... Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley ... a gene encoding a novel transient receptor potential channel. Hum ...
  9. Nijmegen Breakage Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1176
    ... K, Varon R. High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany. J Appl Genet. ...
  10. GARS1-Associated Axonal Neuropathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1242
    ... PCR , long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene -targeted microarray designed to detect single- exon deletions ... phenotypes in an Italian family with a GARS gene mutation. Neurology. ... 16534118 ] DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, ...
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