Associated Papers
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
Dhamija R et al.
European Journal of Medical Genetics, 2014
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.
Hoffman JD et al.
Molecular Genetics & Genomic Medicine, 2013
A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.
Alvarez-Rodríguez A et al.
Human Mutation, 2001
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