Article
Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families.
Human molecular genetics - 1 Apr 1994
McMahon R, Mulligan L M, Healey C S, Payne S J, Ponder M, Ferguson-Smith M A, Barton D E, Ponder B A
Abstract excerpt
We have designed PCR primers that permit the rapid non-isotopic detection of mutations in codon 634 of the RET proto-oncogene, the causative mutations in over 80% of MEN 2A and 50% of FMTC families. In this paper we report the investigation of eleven MEN 2A families referred to the East Anglian Regional Genetics Service. Nine of these families carry codon 634 mutations. We were able to confirm the diagnosis of...
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