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Publications by Yasuaki Nishi
Different Attenuated Phenotypes of GM2 Gangliosidosis Variant B in Japanese Patients With HEXA Mutations at Codon 499, and Five Novel Mutations Responsible for Infantile Acute Form
Journal of Human Genetics
Genetics
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Clinical, Enzymatic, and Molecular Characterisation of a Portuguese Family With a Chronic Form of GM2-gangliosidosis B1 Variant.
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Three Novel Mutations of the PAX6 Gene in Japanese Aniridia Patients
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Deficiency of the Hexosaminidase a Activator Protein in a Case of GM2 Gangliosidosis; Variant AB
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