A mutation in SCARB2 is a modifier in gaucher disease-Reference-Cited by-同舟云学术

A mutation in SCARB2 is a modifier in gaucher disease

Published:2011-09-15 Issue:11 Volume:32 Page:1232-1238
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21566/fullpdf

Reference16 articles.

1. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome;Balreira;Hum Mol Genet,2008

2. Charaterization of the ERAD process of the L444P mutant glucocerebrosidase variant;Bendikov-Bar;Blood Cells Mol Dis,2011

3. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am J Hum Genet,2008

4. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand {beta}-glucocerebrosidase;Blanz;Hum Mol Genet,2010

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