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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. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... TJ, Rosenblatt DS, Gravel RA. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol ...
  3. 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. ... Kondo N, Fujiki Y. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis ... group 8 provide a genotype-phenotype correlation. Am J ...
  4. 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; 96 :8562–6. [ PMC free article : PMC17556 ] [ PubMed : 10411915 ] Goldin E, Stahl S, Cooney AM, Kaneski CR, Gupta S, ...
  5. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... period during which participants had their surgery (i.e., availability of ... women in this group were satisfied with contralateral RRM, all women reported ...
  6. Primary Coenzyme Q10 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK410087
    ... GI, Saleem MA., RADAR the UK SRNS Study Group. Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2013; 8 :637–48. [ PMC free article : PMC3613958 ] [ PubMed : 23349334 ] Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos ...
  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. NSDHL-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51754
    ... PCR , long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene -targeted microarray designed to detect single- exon deletions ... novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a ... complementation assay in yeast. Mol Genet Metab. 2003; 80 : ...
  9. Nijmegen Breakage Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1176
    ... PCR , long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene -targeted microarray designed to detect single- exon deletions ... M, Masojc B, Jakubowska A, Matyjasik J, Zlowocka E, Sikorski A, Narod SA, Lubinski J. NBS1 is a prostate ... Res. 2004; 64 :1215–9. [ PubMed : 14973119 ] ...
  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 ... V, Bouteiller D, Ruberg M, Brice A, LeGuern E. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. ...
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