Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
スポンサーリンク
概要
- 論文の詳細を見る
- Springer Japanの論文
- 2009-02-01
著者
-
JIANG Yuwu
Department of Pediatrics, Peking University First Hospital
-
QIN Jiong
Department of Pediatrics, Peking University First Hospital
-
WU Ye
Department of Pediatrics, Peking University First Hospital
-
Qin Jiong
Department Of Pediatrics Peking University First Hospital
-
Wu Ye
Department Of Pediatrics Peking University First Hospital
-
Jiang Yuwu
Department Of Pediatrics Peking University First Hospital
-
Wu Xiru
Department Of Pediatrics Peking University First Hospital
-
WANG Jingmin
Department of Pediatrics, Peking University First Hospital
-
Wang Jingmin
Department Of Pediatrics Peking University First Hospital
-
Du Li
Department Of Medical Genetics Zhongshan School Of Medicine Sun Yat-sen University
-
Gu Qiang
Department Of Biological Sciences Texas Tech University
-
Li Jie
Department Of Anesthesiology Sun Yat-sen Memorial Hospital
-
Pan Yanxia
Pediatric Department Peking University First Hospital
-
Du Li
Pediatric Department Peking University First Hospital
-
Gu Qiang
Department Of Pediatrics Peking University First Hospital
-
Leng Xuerong
Pediatric Department Peking University First Hospital
-
Li Jiao
Pediatric Department Peking University First Hospital
-
Gao Zhijie
Department Of Neurology Children's Hospital Capital Children's Research Institute Affiliated To Peking University
-
PAN Yanxia
Department of Pediatrics, Peking University First Hospital
-
LENG Xuerong
Department of Pediatrics, Peking University First Hospital
関連論文
- Clinical and biochemical studies on Chinese patients with methylmalonic acidumia
- Cloning and Functional Analysis of a Novel DREB1/CBF Transcription Factor Involved in Cold-Responsive Gene Expression in Zea mays L
- Refinement of the DFNA41 locus and candidate genes analysis
- Genetic studies on SURF1 mutations in Chinese patients with mitochondrial encephalopathy
- A Clinical Survey of 65 Patients with Leigh Syndrome
- Modulating effect of hydrogen sulfide on gamma-aminobutyric acid B receptor in recurrent febrile seizures in rats
- Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bε (eIF2Bε) identified in Chinese patients with vanishing white matter disease
- Current Status of Research on Inborn Errors of Metabolism in China
- Mutations in preS genes of genotype C hepatitis B virus in patients with chronic hepatitis B and hepatocellular carcinoma
- Methylenetetrahydrofolate reductase polymorphisms, serum methylenetetrahydrofolate reductase levels, and risk of childhood acute lymphoblastic leukemia in a Chinese population
- Plasmodium falciparum serine-repeat antigen (SERA) forms a homodimer through disulfide bond
- Differential localization of processed fragments of Plasmodium falciparum serine repeat antigen and further processing of its N-terminal 47 kDa fragment
- A study on epileptic negative myoclonus in atypical benign partial epilepsy of childhood
- SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
- Alpers syndrome with prominent white matter changes
- The effects of antiepileptic drugs on spatial learning and hippocampal protein kinase C γin immature rats
- Ototoxicity of a New Glycopeptide, Norvancomycin with Multiple Intravenous Administrations in Guinea Pigs
- An Efficient Caching Scheme for Personal Communication Service Networks(Switching for Mobile Communications)
- Gene transfer of endostatin enhances the efficacy of doxorubicin to suppress human hepatocellular carcinomas in mice
- Midodrine Hydrochloride Is Effective in the Treatment of Children With Postural Orthostatic Tachycardia Syndrome
- Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease
- hOGG1 Ser326Cys polymorphism and risk of childhood acute lymphoblastic leukemia in a Chinese population
- Xp22.3 microdeletions in three Chinese families with X-linked ichthyosis
- Childhood absence epilepsy : Elctroclinical features and diagnostic criteria
- Evidences of protection against blood-stage infection of Plasmodium falciparum by the novel protein vaccine SE36
- Regulated Expression of an Isopentenyltransferase Gene (IPT) in Peanut Significantly Improves Drought Tolerance and Increases Yield Under Field Conditions
- In Vitro and In Vivo Effects of Ketamine on Generation and Function of Dendritic Cells
- 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
- Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II
- 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
- The genetic bases for non-syndromic hearing loss among Chinese
- A Case of Acute Cardiac Tamponade Due to Aortic Rupture in Retrograde Aortic Radiofrequency Catheter Ablation of Left Ventricular Tachycardia
- Epilepsy in children with methylmalonic acidemia : Electroclinical features and prognosis
- 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