Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Maria Kousi; Eija Siintola; Lenka Dvorakova; Hana Vlaskova; Julie Turnbull; Meral Topcu; Deniz Yuksel; Sarenur Gokben; Berge A. Minassian; Milan Elleder; Sara E. Mole; Anna-Elina Lehesjoki; Brain: A Journal of Neurology, 2009, vol. 132, issue 3, p 810, ISSN 00068950. ISBN 14602156.

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