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Article

A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding.

The Journal of biological chemistry - 13 May 1994

van der Vorm E R, Kuipers A, Kielkopf-Renner S, Krans H M, Möller W, Maassen J A

Abstract excerpt

Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism. The mutant receptor was expressed stably in CHO and transiently in COS-1 cells. It was found that the Ser412 mutant is not cleaved into alpha- and beta-subunits and remains as a 210-kDa proreceptor at an...

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PMID: 8188715

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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