George A. Díaz

1. Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid β-Glucosidase Mutations
   2000/06/01 by George A. Diaz, George A. Díaz, Bruce D. Gelb +15 · 56 citations
   Biochemistry, Genetics and Molecular Biology · Chemistry · Medicine · #Allele #Biology #Carbohydrate Chemistry and Synthesis #Cellular transport and secretion #Founder effect #Gene #Genetics #Genotype #Haplotype #Linkage disequilibrium #Locus (genetics) #Lysosomal Storage Disorders Research #Medicine #Population
2. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population
   2013/08/08 by Bryn D. Webb, Tracy Brandt, L. Liu +9 · 17 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · #Cell Adhesion Molecules Research #Renal and related cancers #Alport syndrome #Genetics #Haplotype #Population #Founder effect #Mutation #Genetic linkage #Allele #Medicine #Biology #Glomerulonephritis #Gene #Kidney