Genotype-Phenotype Analysis of Mutation R778L in the ATP7B Gene
スポンサーリンク
概要
著者
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Kodama Hiroko
帝京大学 医学部医学科
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Gu Yan-hong
Department Of Pediatrics Teikyo University School Of Medicine
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Kodama Hiroko
Department Of Pediatrics School Of Medicine Teikyo University
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Shiga Katsuaki
Department Of Pediatrics Teikyo University School Of Medicine
関連論文
- Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease
- Copper Metabolism and Copper Transport Disorders
- The first reported case of Menkes disease caused by an Alu insertion mutation
- Genotype-Phenotype Analysis of Mutation R778L in the ATP7B Gene
- Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association
- Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
- Intravenous Arginine Dramatically Improved Hyperammonemia in a Patient with Late-onset Ornithine Transcarbamylase Deficiency
- Genetic Variation in ATP7B Promotor and 5' UTR in Han Chinese Patients with Wilson's Disease
- Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L
- Development of antirotavirus agents in Asia
- 症例報告 Long-term Treatment with High-dose Zinc Sulphate in 36 Children with Wilson's Disease
- Genotype-Phenotype Analysis of Mutation R778L in the ATP7B Gene