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8 results
  1. ... at the molecular level of portions of chromosomes ( loss of heterozygosity ), such as 5q, 18q, and 17p; and pathogenic variants of the KRAS oncogene. The important genes involved in these chromosome losses are APC (5q), DCC ... pathway is loss or pathogenic variant–inactivation of the APC gene. ...
  2. ... correlation of clinical, pathologic, and molecular features including loss of heterozygosity at BRCA1 and BRCA2. Int J Radiat Oncol ...
  3. NLM Digital Collections - Spinraza and Zolgensma for spinal muscular atrophy : effectiveness and value : final evidence ... 
    Publication: [Boston, Massachusetts] : Institute for Clinical and Economic Review, May 24, 2019
    ... patients School of Medicine Estimated Genetic documentation of 5Q Change from baseline in Revised upper ... Are treatment naïve to Spinraza Estimated life ...
  4. ... opportunity of using Gal/Gal selection for Gal heterozygosity. Therefore the main programs are:. 1. Time sequence on heterozygote isolations, to complete that picture. Include segre- gation ...
  5. NLM Digital Collections - The Gene Map of Homo sapiens: Status and Prospectus 
    Publication: Cold Spring Harbor Laboratory. Press, 1986
    ... be mapped, witness cystic fibrosis, even though the heterozygote cannot be iden- tified. The mapping information developed ... lp Hemoglobin a8 16p,l1p Hexosaminidase a8 15q,5q HLA-A,-B,-C H,L 6p,15q ...