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13篇 您的检索式:作者名="Akanuma J"
    题名 作者 年代 出处 被引量
1Glycogen storage diseasetype la: molecular diagnosis of 51 Japanese patients and character-ization of splicing mutations by analysis of ectopically transcribedmRNA from lymphoblastic cells 显示文摘Akanuma J Nishigaki T Fujii K 2000Am J Med Genet2000,91,2:1
2Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's disease显示文摘Tanaka N Goto Y Akanuma J 2010Mitochondrion2010,10,1:1
3A novel mtDNA Cl1777A mutation in Leigh syndrome 显示文摘Komaki H Akanuma J Iwata H 2003Mitochondrion2003,2,4:1
4Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene显示文摘Akanuma J Muraki K Komaki H 2000J Hum Genet2000,45,:1
5Increased liver glucose-transporter protein and mRNA in streptozotocin-induced diabeteic rats显示文摘OKA Y ASANO T SHIBASAKI Y LIN J L TSUKUDA K AKANUMA Y TAKAKU F 1990Diabetes1990,39,:1
6Two pathogenic point muta- tions exist in the authentic mitoehondrial genome, not in the nuclear pseudogene 显示文摘Akanuma J Muraki K Komaki H 2000J Hum Genet2000,45,6:1
7Two CPT2mutations in three Japanese patients with carnitine palmitoyl-transferase II deficiency: functional analysis and association withpolymorphic haplotypes and two clinical phenotypes 显示文摘WATAYA K AKANUMA J CAVADINI P 1998HumMutat1998,11,5:1
8Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer显示文摘Nagasaki Y Matsubara Y Takano H Fujii K Senoo M Akanuma J 1999Pediatr Res1999,45,41:1
9Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acylCoA dehydrogenase deficiency 显示文摘Fujii K Matsubara Y Akanuma J 2000Hum Mutat2000,15,2:1
10Methods for reducing nonspecific interaction in antibody-antigen assay via atomic force microscopy显示文摘Wakayama J Sekiguchi H Akanuma S 0,,01:1
11Hydraulic model tests for evaluating sediment control function with grid-type high dam显示文摘HORIUCHI S AKANUMA J I OGAWA K 2009Journal of the Japan Society of Erosion Control Engineering2009,62,:1
12Alterations in the expressions of mRNA for GDNF and its receptors in the ventral midbrain of rats exposed to subchronic phencyclidine显示文摘Semba J Akanuma N Wakuta M 2004Brain Res Mol Brain Res2004,124,1:1
13Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deftciency显示文摘Wataya K Akanuma J Cavadini P 1998Hum Mutat1998,11,5:1
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