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

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103 Scopus citations

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Medicine & Life Sciences