血影蛋白β非红细胞型2基因中的一种新型错义突变可能与5型脊髓小脑共济失调相关。 - Suppr

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超能文献

A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5.

作者信息

Liu Li-Zhi, Ren Ming, Li Mao, Ren Yu-Ting, Sun Bo, Sun Xiao-Sun, Chen Si-Yu, Li Si-Yuan, Huang Xu-Sheng

机构信息

Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.

Department of Neurology, Affiliated Hospital of Weifang Medical University, Weifang, Shandong 261031, China.

出版信息

Chin Med J (Engl). 2016 Oct 20;129(20):2516-2517. doi: 10.4103/0366-6999.191834.

DOI:10.4103/0366-6999.191834

PMID:27748352

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5072272/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/877a/5072272/fa01a90041f6/CMJ-129-2516-g001.jpg

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本文引用的文献

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.一个患有SPTBN2基因新型三核苷酸框内缺失突变的日本脊髓小脑共济失调5型家系：临床与遗传学研究

J Hum Genet. 2014 Oct;59(10):569-73. doi: 10.1038/jhg.2014.74. Epub 2014 Aug 21.

Predicting functional effect of human missense mutations using PolyPhen-2.使用PolyPhen-2预测人类错义突变的功能效应。

Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20. doi: 10.1002/0471142905.hg0720s76.

Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.5型脊髓小脑共济失调：一个德系家族的临床和分子遗传学特征

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Genome Res. 2001 May;11(5):863-74. doi: 10.1101/gr.176601.

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