RAB39B'deki mutasyonlar X-bağlantılı zihinsel engelliliğe ve ⁇ -sinüklein patolojisi ile erken başlangıçlı Parkinson hastalığına neden olur.

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, Marsh AP, Mignogna ML, Hayflick SJ, Leventer RJ, Delatycki MB, Mellick GD, Kalscheuer VM, D'Adamo P, Bahlo M, Amor DJ, Lockhart PJ.

Am J Hum Genet · 2014-11-26

DOI: 10.1016/j.ajhg.2014.10.015PMID: 25434005