桑格测序
先证者
帕金森病
突变
表型
遗传学
神经科学
医学
心理学
生物
基因
内科学
疾病
作者
Maria Sokratous,Marianthi Breza,Konstantin Senkevich,Ziv Gan‐Or,Stefania Kalampokini,Cleanthi Spanaki,Antonios Provatas,Zane Zaunmuktane,Varvara Valotassiou,Panagiotis Georgoulias,Stéphanie Efthymiou,Georgios M. Hadjigeorgiou,Henry Houlden,Georgia Xiromerisiou
摘要
The data that support the findings of this study are available from the corresponding author upon reasonable request. Figure S1. (A) Familial pedigree and chromatograms (Sanger sequencing, in the reverse direction/minus strand) of A30G SNCA. The proband and her mother harbored the heterozygous variation. All other relatives were unaffected with a normal brain MRI. (B) Structural model of A30G SNCA Appendix S1. Supporting information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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