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publicationName The American Journal of Human Genetics
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bibliographicCitation Hřebíček M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Čížková A, Poupětová H, Sikora J, Uřinovská J, Stránecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJHM, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). The American Journal of Human Genetics. 2006 Nov;79(5):807–19. doi: 10.1086/508294.
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date 200611
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title Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
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