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Literature DB >> 31614333

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

M J E Walenkamp¹, J M Wit².

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2019 PMID： 31614333 DOI： 10.1530/EJE-19-0801

Source DB: PubMed Journal: Eur J Endocrinol ISSN： 0804-4643 Impact factor: 6.664

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1. Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation.

Authors: Laura Di Patria; Giosuè Annibalini; Amelia Morrone; Lorenzo Ferri; Roberta Saltarelli; Luca Galluzzi; Aurora Diotallevi; Matteo Bocconcelli; Maria Alice Donati; Rita Barone; Renzo Guerrini; Jaak Jaeken; Vilberto Stocchi; Elena Barbieri
Journal: Cell Mol Life Sci Date: 2022-02-24 Impact factor: 9.207

1 in total