Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay
about
Ataxia.Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia EncephalopathyLate-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridizationProgressive myoclonus epilepsy associated with SACS gene mutationsAtaxia in children: early recognition and clinical evaluation.SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
P2860
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay
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2013 nî lūn-bûn
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2013 թուականին հրատարակուած գիտական յօդուած
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2013 թվականին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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name
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
@ast
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
@en
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
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type
label
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
@ast
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
@en
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
@nl
prefLabel
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
@ast
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
@en
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
@nl
P2860
P50
P3181
P1433
P1476
Novel SACS mutations identifie ...... ataxia of Charlevoix-Saguenay
@en
P2093
Helge Boman
Per Morten Knappskog
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0066145
P407
P577
2013-01-01T00:00:00Z