Additional file 1: Figure S1. of The RAB39B p.G192R mutation causes X-linked dominant Parkinsonâ s disease
作者:Ignacio Mata, Yongwoo Jang, Chun-Hyung Kim, David S. Hanna, Michael O. Dorschner, Ali Samii, Pinky Agarwal, John Roberts, Olga Klepitskaya, David Shprecher, Kathryn Chung, Stewart Factor, Alberto J. Espay, Fredy J. Revilla, Donald S. Higgins, Irene Litvan, James Leverenz, Dora Yearout, Miguel Inca-Martinez, Erica Martinez, Tiffany R. Thompson, Brenna Cholerton, Shu‐Ching Hu, Karen L. Edwards, Kwang-Soo Kim, Cyrus Zabetian · 发表于:Figshare · 年份:2015 · DOI:10.6084/m9.figshare.4470584 · 研究领域:Parkinson's Disease Mechanisms and Treatments、Neurological diseases and metabolism、Nuclear Receptors and Signaling
Pedigrees with variants of unknown significance. Pedigrees in which the RAB39B (A) c.428C>G (p.A143G) and (B) c.624_626delGAG (p.R209del) variants were observed. Individuals affected with Parkinsonâ s disease are represented with black symbols, unaffected individuals with open symbols. Age at onset is indicated immediately below each symbol, followed by age at last clinical evaluation. Wt = wild type; Mut = mutation. (PDF 35 kb)