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SPTBN2 wt Allele

Known as: SCA5, GTRAP41, Spectrin, Beta, Non-Erythrocytic 2 wt Allele 
Human SPTBN2 wild-type allele is located in the vicinity of 11q13.2 and is approximately 44 kb in length. This allele, which encodes spectrin beta… 
National Institutes of Health

Related topics

Related topics

4 relations
Cell MovementCytokinesisMuscle ContractionRegulation of Cell Shape

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
What Side Are We On? A Call to Arms to the Asian American Community
INTRODUCTION .......................................................................................... 169 I. THE COMPLICATED… 
2014
2014
b-III spectrinunderpinsankyrinRfunction inPurkinje cell dendritic trees : protein complex critical for sodium channel activity is impaired by SCA 5-associated mutations
Beta III spectrin is present throughout the elaborate dendritic tree of cerebellar Purkinje cells and is required for normal… 
2012
2012
4 Eye Movement Abnormalities in Spinocerebellar Ataxias
SCAs are associated with at least 31 different genetic loci, but the responsible gene is known in only 19 of them. Causative… 
2011
2011
New gene of spinocerebellar ataxia.
Sir, We read with great interest the paper published by Wang et al . (2010). In the introduction the authors stated that ‘So far… 
2010
2010
ABRAHAM LINCOLN MAY HAVE HAD SCA TYPE 5
In his recent Historical Neurology article, Dr. Sotos1 concludes that it is highly unlikely that President Lincoln inherited the… 
2007
2007
Screening of the SPTBN2 (SCA5) gene in German SCA patients
AbstractThe spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a clinically and genetically heterogeneous… 
2005
2005
Increased lesion load and atrophy of white and gray matter in multiple sclerosis patients
Spinocerebellar ataxia (SCA) has several genetically defined subtypes. A recent multicenter study investigated the clinical… 
2002
2002
Aspectos neuropsicológicos de las ataxias espinocerebelosas autosómico dominantes
Las ataxias espinocerebelosas autosomico dominantes (SCA) siempre han sido dificiles de clasificar debido a la heterogeneidad… 
Review
1999
Review
1999
[Spinocerebellar ataxia type 5 (SCA5)].
What is spinocerebellar ataxia type 5? Spinocerebellar ataxia type 5 is one specifi c type of ataxia among a group of inherited… 
1997
1997
Should spinocerebellar ataxia type 5 be called Lincoln ataxia?
In the past few years, genetic characterization has assigned seven chromosomal loci-designated as spinocerebellar ataxia (SCA… 
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