Article
Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation.
Clinical endocrinology - 1 Jul 2009
Tamanaha Rosana, Camacho Cléber P, Pereira Alexandre C, da Silva Adriana M Alvares, Maciel Rui M B, Cerutti Janete M
Abstract excerpt
CONTEXT: We previously described a six-generation family with G533C RET mutation and medullary thyroid carcinoma, in the largest family reported do date. Of particular interest, phenotype variability regarding the age of onset and clinical presentation of the disease, was observed. OBJECTIVE: We evaluate whether single SNPs within RET oncogene or haplotype comprising the RET variants (defined by Haploview) could...
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