et al. Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin. Genet. 83, 422–431 (2013). Article PubMed CAS Google Scholar Kumar, K. R. et al. Two Australian families with inclusion-body myopathy, Paget’s ...
1.phenotype侧重点：指后天形成的。2.genotype侧重点：指先天携带的。
Genotype-phenotype mapping in a post-GWAS world. Trends Genet. 2012;28:421–6. CentralS.V. Nuzhdin, M.L. Friesen, L.M. McIntyre, Genotype-phenotype mapping in a post- GWAS world, Trends Genet. 28 (2012) 421-426.Nuzhdin, S.V., Friesen, M.L. and McIntyre, L.M. 2012, ...
Genotype–phenotype 来自 onAcademic 喜欢 0 阅读量: 72 作者: DB Kell 摘要: The effects of genes on phenotype are mediated by processes that are typically unknown but whose determination is desirable. The conversion from gene to phenotype is not a simple function of individual genes, but involves...
A major goal of genotype–phenotype databases is to provide assistance in assigning pathogenicity to genetic variants. As the focus shifts from the investigation of single genes by Sanger sequencing towards the determination of variants in tens, hundreds or thousands of genes or even the entire geno...
Genotype-phenotype associations: modulation by diet and obesity. Obesity 2008;6 (Suppl 3):S40-46.Ordovas, J. M. (2008). Genotype-phenotype associations: Modulation by diet and obesity. Obesity, 16(Suppl3), S40-S46. doi: 10.1038/oby.2008.515...
4.3.1 Define genotype, phenotype, dominant allele, recessive allele, co-dominant alleles, locus, homozygous, heterozygous, carrier and test cross. Genotype: the alleles of an organism. Phenotype: the characteristics of an organism. Dominant allele: an allele that has the same effect on the phenot...
Genotype-phenotype correlation in Wilson disease. 来自 Semantic Scholar 喜欢 0 阅读量: 21 作者:S Horslen,SH Hahn 摘要: An abstract is unavailable.关键词: Humans Liver Diseases Hepatolenticular Degeneration Cation Transport Proteins Mental Disorders Genotype Phenotype Mutation Adenosine Triphosphatases ...
4) Genotype-phenotype correlation 基因型-表型关系5) genotype of transgenic plants 转基因植株表型6) mutator phenotype 增变基因表型 1. Changes of mutator phenotypes in Eca-109 cells transfected with wild type DNA polymerase beta; 野生型DNA聚合酶β转染Eca-109细胞后增变基因表型变化...
A genotype-phenotype correlation for GJB2 (connexin 26) deafness INTRODUCTION: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation ... Cryns,K - 《Journal of Medical Genetics》 被引量: 561发表: 2004年 Here...