1) autosomal recessive juvenile parkinsonism
常染色体隐性遗传性青少年型帕金森综合征
1.
Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism;
三个常染色体隐性遗传性青少年型帕金森综合征家系的基因型与表型分析
2) autosomal recessive early-onset Parkinsonism
常染色体隐性遗传性早发型帕金森综合征
1.
Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism;
常染色体隐性遗传性早发型帕金森综合征DJ1基因突变研究
3) autosomal recessive early-onset parkinsonism
常染色体隐性遗传早发性帕金森综合征
1.
Objective To construct the eukaryotic expression vector of autosomal recessive early-onset parkinsonism(AREP) wild type PINK1 gene and to establish human neuroblastoma cell line(SH-SY5Y) stably-expressing PINK1 protein.
目的构建常染色体隐性遗传早发性帕金森综合征(AREP)PINK1基因真核表达载体,建立稳定表达PINK1蛋白的人神经母细胞瘤(SH-SY5Y)细胞株。
2.
PartⅠThe effect of mutated DJ-1 protein to cellular mitochondrial function and expression profiles of genes DJ-1 gene is one of the pathogenic genes that are responsible for autosomal recessive early-onset parkinsonism(AREP)and its effect to the pathogenesis of Parkinson s disease(PD)is still unknown.
第一部分突变型DJ-1蛋白对细胞线粒体功能和基因组表达谱的影响 DJ-1基因是常染色体隐性遗传早发性帕金森综合征(autosomalrecessive early-onset parkinsonism,AREP)的致病基因之一,目前在PD发病机制中的作用仍不清楚。
4) autosomal recessive early-onset Parkinsonism(AREP)
常染色体隐性遗传早发型帕金森病
5) autosomal recessive early-onset Parkinsonism (AR-EP)
常染色体隐性遗传早发型帕金森病(AR-EP)
6) autosomal-dominant non-syndrome deafness
常染色体显性遗传非综合征型耳聋
1.
Mapping of gene underlying autosomal-dominant non-syndrome deafness;
常染色体显性遗传非综合征型耳聋致病基因的定位研究
补充资料：染色体21三体综合征
染色体21三体综合征
病名。即21-三体综合征，详见该条。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条