Monoallelic mutation analysis (MAMA) for identifying germline mutations.

doi:10.1038/ng0995-99

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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...

Topics

Alleles
Animals
Cell Line
Colorectal Neoplasms, Hereditary Nonpolyposis
Cricetinae
DNA Mutational Analysis
DNA-Binding Proteins
Fungal Proteins
Genes, APC
Humans
Hybrid Cells
Lymphocytes
MutS Homolog 2 Protein
Mutation
Sensitivity and Specificity

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