This study should demonstrate the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 patients
Cohort
There are 4 SNPs
The more frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C, and R496H. --- N370S --- --- L444P ---
The more frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C, and R496H. --- N370S ---
An exception is the mutation N370S, which so far has been found only in the visceral form (type1), but still may have a high phenotypic heterogeneity in GD Type 1 (Fairley et al., 2008). --- N370S ---
The more frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C, and R496H. --- N370S --- --- L444P --- --- R463C ---
The more frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C, and R496H. --- N370S --- --- L444P --- --- R463C --- --- R496H ---