1. Discrepancies between genotype and phenotype in hematology: an important frontier
by Ernest Beutler
Blood
Volume 98(9):
November 1, 2001
©2001 by American Society of Hematology

2. Relation between disease severity and age in patients with two genotypes of Gaucher disease.
Relation between disease severity and age in patients with two genotypes of Gaucher disease. The 1226G (N370S) mutation is a mild mutation common in the Jewish population. The frameshift 84GG is a null mutation. Variation within each genotype is great, and there is marked overlap among the phenotypes of patients with these two genotypes.
Ernest Beutler Blood 2001;98:
©2001 by American Society of Hematology