Article
Loss of heterozygosity at the RET protooncogene locus in a case of multiple endocrine neoplasia type 2A.
The Journal of clinical endocrinology and metabolism - 1 Jan 2001
Quadro L, Fattoruso O, Cosma M P, Verga U, Porcellini A, Libroia A, Colantuoni V
Abstract excerpt
We describe a patient affected by multiple endocrine neoplasia type 2A (MEN 2A) bearing a heterozygous germline mutation (Cys(634)Arg) in exon 11 and an additional somatic mutation of the RET protooncogene. A large intragenic deletion, spanning exon 4 to exon 16, affected the normal allele and was detected by quantitative PCR, Southern blot analysis, and screening of several polymorphic markers. This deletion...
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