Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.
Yasui N, Takaoka Y, Nishio H, Nurputra DK, Sekiguchi K, Hamaguchi H, Kowa H, Maeda E, Sugano A, Miura K, Sakaeda T, Kanda F, Toda T.
Yasui N, et al. Among authors: kowa h.
J Hum Genet. 2013 Sep;58(9):611-7. doi: 10.1038/jhg.2013.68. Epub 2013 Jun 13.
J Hum Genet. 2013.
PMID: 23759947