A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H.
Salpietro V, et al. Among authors: kimura h.
Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2.
Mov Disord. 2018.
PMID: 29392776
Free PMC article.