Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease

  title={Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease},
  author={Johanna Schleutker and Leena Haataja and Martin Renlund and Lea Puhakka and Juha Viitala and Leena Peltonen and Pertti Aula},
  journal={Human Genetics},
SummarySalla 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… 
1 Citations
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