Associated Papers
Association of Single Nucleotide Polymorphism in VDR, GC Globulin and CYP2R1 with the Risk of Esophageal Cancer.
Ali E et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2023
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L et al.
Clinical Genetics, 2018
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D et al.
Clinical Genetics, 2010
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
Santamaria R et al.
Journal of Lipid Research, 2007
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
Santamaria R et al.
Human Mutation, 2006
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