Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

ITPR1 encodes an intracellular receptor for inositol 1,4,5-trisphosphate (InsP3) which is highly expressed in the cerebellum and is involved in the regulation of Ca2 + homeostasis. Missense mutations in the InsP3-binding domain (IRBIT) of ITPR1 are frequently associated with early onset cerebellar a...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Gene
Hauptverfasser: Dentici, Maria Lisa, Barresi, Sabina, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Bruselles, Alessandro, Pantaleoni, Francesca, Danieli, Alberto, Iarossi, Giancarlo, Cappa, Marco, Bertini, Enrico, Tartaglia, Marco, Zanni, Ginevra
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier/North-Holland 2017
Schlagworte:
Short Communication
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5607352/
https://ncbi.nlm.nih.gov/pubmed/28698159
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2017.07.017
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