An AciI polymorphism in the 3' untranslated region of the human phosphomannomutase 2 (PMM2) gene

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概要

• 論文の詳細を見る
• 1999-07-01

著者

• KUWAJIMA Katsuko

  Department of Pediatrics, Ibaraki Prefectural Handicapped Children's Center

• Kondo Ikuko

  Department Of Hygiene Ehime University School Of Medicine

• MIZUGISHI Kiyomi

  Department of Pediatrics, Tokyo University School of Medicine

• Obata Keiko

  Department Of Hygiene Ehime University School Of Medicine

• Mizugishi Kiyomi

  Department Of Pediatrics Tokyo University School Of Medicine

• Kuwajima Katsuko

  Department Of Pediatrics Ibaraki Handicapped Children's Hospital

• KUWAJIMA Katsuko

  Department of Pediatrics, Ibaraki Handicapped Children's Hospital

関連論文

• Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome : pathological mutations and polymorphisms
• Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech
• Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome
• Polymorphism of the Monocyte Chemoattractant Protein (MCP-1) Gene Is Associated with the Plasma Level of MCP-1 But Not with Carotid Intima-Media Thickness
• Effect of Genetic Polymorphism of OATP-C (SLCO1B1) on Lipid-Lowering Response to HMG-CoA Reductase Inhibitors
• Classic Rett syndrome in a boy with R133C mutation of MECP2
• Characteristic evoked potentials in childhood-onset dentatorubral-pallidoluysian atrophy
• Proton magnetic resonance spectroscopy on childhood-onset dentatorubral-pallidoluysian atrophy (DRPLA)
• An association of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and common carotid atherosclerosis
• An Association between an Antibody against Chlamydia pneumoniae and Common Carotid Atherosclerosis
• Angiotensin-Converting Enzyme Gene Deletion Allele Disappear Brachial-Carotid Pulse Pressure Amplification
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• Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis"
• A pediatric case of critical illness polyneuropathy : clinical and pathological findings
• Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I
• Commentary to the paper entitled 'Non-radioactive DNA diagnosis for the fragile X syndrome in Japanese mentally retarded males' by Nanba et al.
• Hypotension Associated with Prone Body Position : A Possible Overlooked Postural Hypotension
• The-4,752 C/T Polymorphism in the Presenilin 1 Gene Increases the Risk of Alzheimer's Disease in Apolipoprotein E4 Carriers
• Home Blood Pressure Is a Better Predictor of Carotid Atherosclerosis than Office Blood Pressure in Community-Dwelling Subjects
• An AciI polymorphism in the 3' untranslated region of the human phosphomannomutase 2 (PMM2) gene
• Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

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