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SETX wt Allele

Known as: Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 Gene, Amyotrophic Lateral Sclerosis 4 Gene, Senataxin wt Allele 
Human SETX wild-type allele is located in the vicinity of 9q34.13 and is approximately 95 kb in length. This allele, which encodes probable helicase… 
National Institutes of Health

Related topics

Related topics

9 relations
9q34.13Biological RhythmCellular Stress ResponseDNA Maintenance Process

Papers overview

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2020
2020
Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene
Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease associated with degeneration of motor neurons in the… 
2016
2016
Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population
To the Editor: Ataxia with oculomotor apraxia type 2 (AOA2) (OMIM 606002) is an autosomal recessive disorder, representing… 
2015
2015
Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset
Dear Sirs, Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) caused by mutations… 
2015
2015
Pseudodominant AOA2
We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin… 
2013
2013
The Conservation and Application of Three Hypothetical Protein Coding Gene for Direct Detection of Mycobacterium tuberculosis in Sputum Specimens
Background Accurate and early diagnosis of tuberculosis (TB) is of major importance in the control of TB. One of the most… 
Review
2013
Review
2013
[A molecular classification system for anaplastic glioma].
OBJECTIVE To project a new molecular classification system for anaplastic gliomas based on the molecular biomarkers. METHODS… 
2011
2011
Les ataxies cérébelleuses autosomiques récessives
2010
2010
Ataxie avec apraxie oculomotrice de type 2 (AOA2) : étude clinique, biologique et corrélation génotype/phénotype d’une cohorte de 90 patients
2009
2009
Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene
Sirs,Ataxia with oculomotor apraxia type 2 (AOA2) is anautosomal recessive cerebellar ataxia associated withmutations in the… 
2005
2005
Ataxias cerebelosas autosómicas recesivas. Clasificación, aspectos genéticos y fisiopatología
Introduccion y desarrollo. Las ataxias cerebelosas autosomicas recesivas (ARCA) son un grupo heterogeneo de trastornos… 
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