When Recessive Genes Mutate to Dominant Gene Action
نویسندگان
چکیده
منابع مشابه
ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs.
The defining characteristic of recessive disorders is the absence of disease in heterozygous carriers of the mutant alleles. However, it has been recognized that recessive carriers may differ from noncarriers in some phenotypes. Here, we studied ataxia telangiectasia (AT), a classical recessive disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. We compared the gene an...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2016
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000449116