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Clinically affected;the donor subject is a member of a large kindred with multiple affected individuals BRA family (Xue et al. Hum. Molec. Genet. 3: 635-638;1994);this family is unusual because of the late onset of medullary thyroid cancer;the benign course of the tumor;and the low incidence of pheochromocytoma;no parathyroid disease has been observed;affected grandmother is GM16658;one allele carries a TGC-to-TTC transversion resulting in a substitution of phenylalanine for cysteine at codon 620 CYS620PHE (C620F) in the RET gene.
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