Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.
Díaz
A
A
Montfort
M
M
Cormand
B
B
Zeng
B
B
Pastores
G M
GM
Chabás
A
A
Vilageliu
L
L
Grinberg
D
D
D019943:Amino Acid Substitution / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D005787:Gene Frequency; D005962:Glucosylceramidase / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007585:Jews / Q000235:genetics*; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011995:Recombination, Genetic / Q000235:genetics; D013030:Spain; D013997:Time Factors
D005962:Glucosylceramidase