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References
Eiberg H, Bisgaard ML, and Mohr J (1989) Linkage between alpha 1B-glycoprotein (A1BG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of A1BG. Clin Genet 36: 415
Gonatas NK, Gambetti P, and Baird H (1968) A second type of late infantile amaurotic idiocy with multilamellar cytosomes. Neuropath Exp Neurol 27: 371
Haltia M, Rapola J, and Santavuori P (1973) Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies. Acta Neuropathol (Berlin) 26: 157
Hofmann S, and Peltonen L (2001) The neuronal ceroid lipofuscinoses. In: The metabolic and molecular bases of inherited disease (Scriver C, Beaudet A, Valle D, and Sly WS, eds). New York: McGraw-Hill, pp 3877
Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, et al (1998) Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 7: 291
Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, and Williams RE (1997) Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21–23. Hum Mol Genet 6: 591
Sleat DE, Donnelly RJ, Lackland H, Liu CG, Soha I, Pullarkat RK, and Lobel P (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277: 1802
Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori, P, Hofmann SL, and Peltonen L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376: 584
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(2005). Neuronal Ceroid Lipofuscinosis. In: Functional Ultrastructure. Springer, Vienna. https://doi.org/10.1007/3-211-26392-6_155
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DOI: https://doi.org/10.1007/3-211-26392-6_155
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