Genetic Creutzfeldt-Jakob disease (CJD) is associated with mutations in the human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been identified in 10-15% of …

2018年1月1日 · Genetic Creutzfeldt–Jakob disease (CJD) is associated with mutations in the human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been …

The PRNP gene coding for the prion protein has been mapped to chromosome 20p12-pter (Sparkes et al. 1986), and a number of mutations in this gene have been associated with …

2001年10月1日 · Hereditary CJDs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report a family in which four patients developed classical clinical …

To study ancestral origins of the 200K mutation-associated chromosomes, we selected microsatellite markers flanking the PRNP gene on chromosome 20p12-pter and an intragenic …

More decisively, Lee et al. reported in the Journal that Libyan, Tunisian, Italian (continental), Chilean, and Spanish families with CJD share a major haplotype on chromosome 20p12-pter, …

We report three novel mutations of the PRNP gene in unrelated patients with clinical and histopathologic features of CJD. The three mutations were missense: c635G>A (E196K), …

先天性内胆管发育不良综合征是一种常染色体显性遗传病，约95%源于位于20p12的JAGl基因突变。 截止目前已发现超过240种引发先天性肝内胆管发育不良综合征的JAGl基因突变。

2018年1月1日 · Genetic Creutzfeldt-Jakob disease (CJD) is associated with mutations in the human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been...

2014年1月1日 · Genetic Creutzfeldt–Jakob disease (CJD) is associated with mutations in the human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been …