De novo point mutations in patients diagnosed with ataxic cerebral palsy

Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients with cerebral palsy and there is little proven evidence of genetic causes. As part of a large project investigatin...

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Hlavní autoři: Parolin Schnekenberg, R, Perkins, EM, Miller, JW, Davies, WIL, D'Adamo, M, Pessia, M, Fawcett, KA, Sims, D, Gillard, E, Hudspith, K, Skehel, P, Williams, J, O'Regan, M, Jayawant, S, Jefferson, R, Hughes, S, Lustenberger, A, Ragoussis, J, Jackson, M, Tucker, SJ, Németh, AH
Médium: Journal article
Jazyk:English
Vydáno: Oxford University Press 2015