Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bε (eIF2Bε) identified in Chinese patients with vanishing white matter disease
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概要
- 論文の詳細を見る
- 2011-04-01
著者
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JIANG Yuwu
Department of Pediatrics, Peking University First Hospital
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WU Ye
Department of Pediatrics, Peking University First Hospital
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Wu Ye
Department Of Pediatrics Peking University First Hospital
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WANG Jingmin
Department of Pediatrics, Peking University First Hospital
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Pan Yanxia
Pediatric Department Peking University First Hospital
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Du Li
Pediatric Department Peking University First Hospital
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Leng Xuerong
Pediatric Department Peking University First Hospital
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WU Ye
Pediatric Department, Peking University First Hospital
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WANG Xuemin
Human Genetics Division, University of Southampton, Duthie Building, Southampton General Hospital
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WANG Jingmin
Pediatric Department, Peking University First Hospital
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LI Jiao
Pediatric Department, Peking University First Hospital
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DAI Lifang
Pediatric Department, Peking University First Hospital
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WU Xiru
Pediatric Department, Peking University First Hospital
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PROUD Christopher
Human Genetics Division, University of Southampton, Duthie Building, Southampton General Hospital
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JIANG Yuwu
Pediatric Department, Peking University First Hospital
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Li Jiao
Pediatric Department Peking University First Hospital
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Dai Lifang
Pediatric Department Peking University First Hospital
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Wang Xuemin
Human Genetics Division University Of Southampton Duthie Building Southampton General Hospital
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Proud Christopher
Human Genetics Division University Of Southampton Duthie Building Southampton General Hospital
関連論文
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- Genetic studies on SURF1 mutations in Chinese patients with mitochondrial encephalopathy
- A Clinical Survey of 65 Patients with Leigh Syndrome
- Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bε (eIF2Bε) identified in Chinese patients with vanishing white matter disease
- A study on epileptic negative myoclonus in atypical benign partial epilepsy of childhood
- Alpers syndrome with prominent white matter changes
- The effects of antiepileptic drugs on spatial learning and hippocampal protein kinase C γin immature rats
- Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease
- Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bε (eIF2Bε) identified in Chinese patients with vanishing white matter disease
- Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
- Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)
- Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
- Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay
- Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations
- Increased Expression of Netrin-1 and Its Deleted in Colorectal Cancer Receptor in Human Diseased Lumbar Intervertebral Disc Compared With Autopsy Control