Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M; Siintola E; Dvorakova L; Vlaskova H; Turnbull J; Topcu M; Yuksel D; Gokben S; Minassian BA; Elleder M; Mole SE; Lehesjoki AE; Brain: A Journal Of Neurology, 2009, vol. 132, issue Pt 3, p 810, ISSN 14602156. ISBN 14602156.

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