618-36-0

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Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10.

Andreas Machens et al.

Endocrine-related cancer, 16(1), 171-177 (2008-10-22)

Rearranged during transfection (RET) germ-line mutations in exon 10 are peculiar because they produce both gain-of-function multiple endocrine neoplasia 2A and loss-of-function Hirschsprung's disease phenotypes. Drawing on 38 medullary thyroid cancer patients harboring germ-line mutations in codon 620 (n=8), 618

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