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11篇 您的检索式:期刊名="AmJHum Genet"
    题名 作者 年代 出处 被引量
1The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families,and report of four novel mutations显示文摘Sbastio G Sperandeo MP Panico M 1995AmJHum Genet1995,56,:1
2High prevalence of a mutation in the cystathionine β-synthase gene显示文摘Tsai MY Bignell M Schwichtenberg K 1996AmJHum Genet1996,59,:1
3A 68-bp insertion found in a common variant and is skipped by alternative splicing of the cystathionine β-synthase mRNA显示文摘Sperandeo MP De Franchis R Andria G 1996AmJHum Genet1996,59,:1
4Alpha-B crystallin gene(CRYAB) mutation causes dominant congenital posterior polar cataract in humans显示文摘Berry V Francis P Reddy MA 2001AmJHum Genet2001,69,:1
5Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder显示文摘Hu XZ Lipsky RH Zhu G 2006AmJHum Genet2006,78,5:1
6Construction of a genetic linkage map in man using restriction fragment length polymorphisms 显示文摘Botstein D White R L Skolnick M 1980AmJHum Genet1980,32,:1
7How rapidly does the human mitochondrial genome evolve ? 显示文摘 Kubacka I Mackey DA 1996AmJHum Genet1996,59,:1
8Variable levels of a heteroplasmic point mutation in individual hair roots 显示文摘 Macaulay VA Sykes BC 1997AmJHum Genet1997,61,:1
9The frenquency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age 显示文摘 Reynolds RL Herrin GL 2000AmJHum Genet2000,66,:1
10A sensentive denaturing gradient-gel electrophoreses assay reveals a high frequency of heteroplasmy in hyperviariable region 1 of the human mtDNA control region 显示文摘 Parsons TJ Steighner BJ 2000AmJHum Genet2000,67,:1
11Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck 显示文摘 Hartshome GM Barlow D 1997AmJHum Genet1997,60,:1
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