Article
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.
Human mutation - 1 Apr 2009
Margraf Rebecca L, Crockett David K, Krautscheid Patti M F, Seamons Ryan, Calderon Fernanda R O, Wittwer Carl T, Mao Rong
Abstract excerpt
Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal-dominant disorder caused by deleterious mutations within the RET protooncogene. MEN2 RET mutations are mainly heterozygous, missense sequence changes found in RET exons 10, 11, and 13-16. Our group has developed the publicly available, searchable MEN2 RET database to aid in genotype/phenotype correlations, using Human Genome Variation Society...
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