Gaucher Disease Type 1: Cloning and Characterization of a cDNA Encoding Acid β-Glucosidase from an Ashkenazi Jewish Patient

Keyphrases

• Glucosidase 100%
• Gaucher Disease 100%
• Jewish Patients 100%
• Ashkenazi Jews 100%
• Complementary DNA (cDNA) 100%
• Autosomal Recessive 16%
• Missense mutation 16%
• Genome Sequencing 16%
• Lysosomal Storage Disease 16%
• Index Patient 16%
• Genetic Disease 16%
• Genetic Basis 16%
• Poly(A)+ RNA 16%
• Mutant Alleles 16%
• Jewish 16%
• Single-point mutation 16%
• Restriction Digestion 16%
• Oligonucleotide Hybridization 16%

Biochemistry, Genetics and Molecular Biology

• Glucosidase 100%
• Gaucher's Disease 100%
• Genetics 16%
• Allele 16%
• RNA 16%
• Missense Mutation 16%
• Autosomal Recessive Inheritance 16%
• Oligonucleotide 16%
• Genetic Disorder 16%
• Lysosomal Storage Disease 16%
• DNA Library 16%
• Restriction Modification System 16%
• Arginine 16%
• Genomics 16%