Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2.
Swensen
J
J
Department of Medical Informatics, University of Utah, Salt Lake City 84108, USA.
Lewis
C M
CM
Cannon-Albright
L A
LA
D000483:Alleles; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins; D004591:Electrophoresis, Polyacrylamide Gel; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D015810:Linkage Disequilibrium; D051718:MutS Homolog 2 Protein; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics
D017931:DNA Primers; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein