Author:
Pavelka Margit,Roth Jürgen
Reference8 articles.
1. Eiberg H, Bisgaard ML, and Mohr J (1989) Linkage between alpha IB-glycoprotein (AIBG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of AIBG. Clin Genet 36: 415
2. Gonatas NK, Gambetti P, and Baird H (1968) A second type of late infantile amaurotic idiocy with multilamellar cytosomes. Neuropath Exp Neurol 27: 371
3. Haltia M, Rapola J, and Santavuori P (1973) Infantile type of socalled neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies. Acta Neuropathol (Berlin) 26: 157
4. 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
5. 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