1.
Hum Mutat
; 26(3): 271-3; author reply 274-5, 2005 Sep.
Article
in English
| MEDLINE
| ID: mdl-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.