An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
VWA1 基因中 10 bp 的祖先重复序列扩增导致隐性遗传性运动神经病
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awaa420
Pagnamenta Alistair T, Kaiyrzhanov Rauan, Zou Yaqun, Da'as Sahar I, Maroofian Reza, Donkervoort Sandra, Dominik Natalia, Lauffer Marlen, Ferla Matteo P, Orioli Andrea, Giess Adam, Tucci Arianna, Beetz Christian, Sedghi Maryam, Ansari Behnaz, Barresi Rita, Basiri Keivan, Cortese Andrea, Elgar Greg, Fernandez-Garcia Miguel A, Yip Janice, Foley A Reghan, Gutowski Nicholas, Jungbluth Heinz, Lassche Saskia, Lavin Tim, Marcelis Carlo, Marks Peter, Marini-Bettolo Chiara, Medne Livija, Moslemi Ali-Reza, Sarkozy Anna, Reilly Mary M, Muntoni Francesco, Millan Francisca, Muraresku Colleen C, Need Anna C, Nemeth Andrea H, Neuhaus Sarah B, Norwood Fiona, O'Donnell Marie, O'Driscoll Mary, Rankin Julia, Yum Sabrina W, Zolkipli-Cunningham Zarazuela, Brusius Isabell, Wunderlich Gilbert, Karakaya Mert, Wirth Brunhilde, Fakhro Khalid A, Tajsharghi Homa, Bönnemann Carsten G, Taylor Jenny C, Houlden Henry