Article
[Phenotypic expression of a mutation in MEN 2A documented in a family in the western part of Sweden].
Lakartidningen - 29 Aug 2001
Lindskog S, Ahlman H, Illerskog A, Nilsson O, Nilsson B, Tisell L E, Ysander L, Jansson S
Abstract excerpt
A missense mutation at codon 618 of the RET proto-oncogene is a rather unusual cause of multiple endocrine neoplasia 2A. We report the phenotypic expression of this specific RET mutation in a large Swedish family. The family was mapped back to the 18th century. Since 1971 the family has been included in a biochemical screening program, and since 1994 has undergone genetic screening. Twenty-seven individuals were...
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