Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2-Reference-Cited by-同舟云学术

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Published:2017-03-27 Issue:1 Volume:161 Page:107-110
ISSN:1213-8118
Container-title:Biomedical Papers
language:
Short-container-title:BIOMED PAP

Author:

Petrovicova Andrea,Brozman Miroslav,Kurca Egon,Gobo Tibor,Dluha Jana,Kalmarova Klaudia,Nosal Vladimir,Hikkelova Martina,Krajciova Adriana,Burjanivova Tatiana,Sivak Stefan

Publisher

Palacky University Olomouc

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://biomed.papers.upol.cz/doi/10.5507/bp.2016.066.pdf

Reference25 articles.

1. A novel locus for episodic ataxia:UBR4 the likely candidate

2. Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

3. A method and server for predicting damaging missense mutations

4. MutationTaster2: mutation prediction for the deep-sequencing age

5. Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels

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