Article
Monoallelic mutation analysis (MAMA) for identifying germline mutations.
Nature genetics - 1 Sept 1995
Papadopoulos N, Leach F S, Kinzler K W, Vogelstein B
Abstract excerpt
Dissection of germline mutations in a sensitive and specific manner presents a continuing challenge. In dominantly inherited diseases, mutations occur in only one allele and are often masked by the normal allele. Here we report the development of a sensitive and specific diagnostic strategy based on somatic cell hybridization termed MAMA (monoallelic mutation analysis). We have demonstrated the utility of this...
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