Efficient Detection of Copy Number Mutations in PMS2 Exons with a Close Homolog
نویسندگان
چکیده
منابع مشابه
PMS2 mutations in childhood cancer.
Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus. New studies have shown, however, that earlier analyses of this gene have had technical limitations and also that the genetic behavior of mutant PMS2 alleles is unusual, in that, unlike MLH1 or MSH2 mutations, PMS2 mutations show low heterozygote penetrance. As a result, a dominant...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2018
ISSN: 1525-1578
DOI: 10.1016/j.jmoldx.2018.03.010