Novel single base-pair deletion in exon 1 of XK gene...

Journal of the Neurological Sciences 2014 / 04 Vol. 339; Iss. 1-2

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis

Wiethoff, Sarah, Xiromerisiou, Georgia, Bettencourt, Conceição, Kioumi, Anna, Tsiptsios, Iakovos, Tychalas, Athanasios, Evaggelia, Markousi, George, Kaltsounis, Makris, Vasileios, Hardy, John, Houlden
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Volume:
339
Language:
english
Journal:
Journal of the Neurological Sciences
DOI:
10.1016/j.jns.2014.01.034
Date:
April, 2014
File:
PDF, 566 KB
english, 2014
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