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Citation: Siintola, Eija et al., The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter, American journal of human genetics , 81(1), 2007, pp. 136-146

Authors: Kolehmainen, Juha Black, Graeme C.M. Saarinen, Anne Chandler, Kate Clayton-Smith, Jill Träskelin, Ann-Liz Perveen, Rahat Kivitie-Kallio, Satu Norio, Reijo Warburg, Mette Fryns, Jean-Pierre de la Chapelle, Albert Lehesjoki, Anna-Elina

Citation: Kolehmainen, Juha et al., Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport, American journal of human genetics , 72(6), 2003, pp. 1359-1369