Gardos channelopathy: functional analysis of a novel KCNN4 variant

We show that the novel KCNN4 variant p.S314P is a gain-of-function mutation but is less severe than the previously reported p.R352H variant. The clinical heterogeneity, blurred symptoms, and absence of specific diagnostic markers make the diagnosis of Gardos channelopathy challenging.

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Bibliografski detalji
Izdano u:Blood Adv
Glavni autori: Fermo, Elisa, Monedero-Alonso, David, Petkova-Kirova, Polina, Makhro, Asya, Pérès, Laurent, Bouyer, Guillaume, Marcello, Anna Paola, Longo, Filomena, Graziadei, Giovanna, Barcellini, Wilma, Bogdanova, Anna, Egee, Stephane, Kaestner, Lars, Bianchi, Paola
Format: Artigo
Jezik:Inglês
Izdano: American Society of Hematology 2020
Teme:
Exceptional Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7756992/
https://ncbi.nlm.nih.gov/pubmed/33351129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020003285
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