Calcium Sensing Receptor Mutations Implicated in Pancreatitis and Idiopathic Epilepsy Syndrome Disrupt an Arginine-rich Retention Motif

Calcium sensing receptor (CaSR) mutations implicated in familial hypocalciuric hypercalcemia, pancreatitis and idiopathic epilepsy syndrome map to an extended arginine-rich region in the proximal carboxyl terminus. Arginine-rich motifs mediate endoplasmic reticulum retention and/or retrieval of mult...

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Detalhes bibliográficos
Main Authors: Stepanchick, Ann, McKenna, Jennifer, McGovern, Olivia, Huang, Ying, Breitwieser, Gerda E.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2010
Assuntos:
Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3709174/
https://ncbi.nlm.nih.gov/pubmed/20798521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000320560
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