Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease
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- Schleutker, J., Haataja, L., Renlund, M. et al. Hum Genet (1991) 88: 95. doi:10.1007/BF00204936
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Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows that lamp genes are not involved in Salla disease. The lamp genes were localized, using Southern hybridization in hamster — human hybrid cell panels, to chromosomes 13 (lamp A) and X (lamp B).