Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
第一作者:
Kenta,Orimo
第一单位:
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
作者:
主题词
人类(Humans);葡糖苷酰鞘氨醇酶(Glucosylceramidase);多系统萎缩(Multiple System Atrophy);基因组, 人(Genome, Human);疾病遗传易感性(Genetic Predisposition to Disease);等位基因(Alleles);女(雌)性(Female);男(雄)性(Male);遗传变异(Genetic Variation);β葡糖苷酶类(beta-Glucosidase)
DOI
10.1038/s10038-024-01266-1
PMID
39020124
发布时间
2024-11-30
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Journal of human genetics
613-621页
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