These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Gaucher mutation N188S is associated with myoclonic epilepsy.
    Author: Kowarz L, Goker-Alpan O, Banerjee-Basu S, LaMarca ME, Kinlaw L, Schiffmann R, Baxevanis AD, Sidransky E.
    Journal: Hum Mutat; 2005 Sep; 26(3):271-3; author reply 274-5. PubMed ID: 16086325.
    Abstract:
    The recent article by Montfort et al. [2004] reported a functional analysis of 13 glucocerebrosidase alleles, including mutation N188S, which they considered to be a "very mild mutation" or "modifier variant." Our clinical experience with patients carrying this mutation and preliminary protein modeling data lead us to dispute this conclusion.
    [Abstract] [Full Text] [Related] [New Search]