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Literature DB >> 31017293

[De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia].

M L Carrasco-Marina¹, P Quijada-Fraile², A Fernandez-Marmiesse³, N Gutierrez-Cruz¹, F Martin-Del Valle¹.

Abstract

Entities: Disease Gene Species

Year: 2019 PMID： 31017293 DOI： 10.33588/rn.6809.2018455

Source DB: PubMed Journal: Rev Neurol ISSN： 0210-0010 Impact factor: 0.870

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1 in total

1. Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K_V4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.

Authors: Ginevra Zanni; Chen-Tsung Hsiao; Ssu-Ju Fu; Chih-Yung Tang; Alessandro Capuano; Luca Bosco; Federica Graziola; Emanuele Bellacchio; Serenella Servidei; Guido Primiano; Bing-Wen Soong; Chung-Jiuan Jeng
Journal: Int J Mol Sci Date: 2021-05-07 Impact factor: 5.923

1 in total

[De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia].

1. Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.

1. Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K_V4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.