Title : Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations.

Pub. Date : 2010 Jun

PMID : 20473317






1 Functional Relationships(s)
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1 We identify two unpaired cysteines that predispose human RET to maturation impediments in the endoplasmic reticulum and establish a quantitative cell-based RET maturation assay that offers a biochemical correlate of HSCR disease severity. Cysteine ret proto-oncogene Homo sapiens