Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis
XK基因外显子1中一种新的单碱基对缺失导致麦克劳德综合征，表现为舞蹈症、肌肉萎缩、周围神经病变、棘红细胞增多症和溶血
期刊:Journal of the Neurological Sciences
影响因子:3.2
doi:10.1016/j.jns.2014.01.034
Wiethoff, Sarah; Xiromerisiou, Georgia; Bettencourt, Conceição; Kioumi, Anna; Tsiptsios, Iakovos; Tychalas, Athanasios; Evaggelia, Markousi; George, Kaltsounis; Makris, Vasileios; Hardy, John; Houlden, Henry
