A mutation in SCARB2 is a modifier in Gaucher disease

Lysosomal integral membrane protein type 2 (LIMP-2) is responsible for proper sorting and lysosomal targeting of glucocerebrosidase, the enzyme deficient in Gaucher disease (GD). Mutations in the gene for LIMP-2, SCARB2, are implicated in inherited forms of myoclonic epilepsy, and myoclonic epilepsy...

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Hlavní autoři: Velayati, Arash, DePaolo, John, Gupta, Nidhi, Choi, Jae H., Moaven, Nima, Westbroek, Wendy, Goker-Alpan, Ozlem, Goldin, Ehud, Stubblefield, Barbara K., Kolodny, Edwin, Tayebi, Nahid, Sidransky, Ellen
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3196787/
https://ncbi.nlm.nih.gov/pubmed/21796727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21566
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