(PDF) Different Attenuated Phenotypes of GM2 Gangliosidosis

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 - United Kingdom

doi 10.1007/s10038-003-0080-9

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October 18, 2003

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Springer Science and Business Media LLC

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Amanote Research

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 - United Kingdom

doi 10.1007/s10038-003-0080-9

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Biochemical Characterization of the GM2 Gangliosidosis B1 Variant

Clinical, Enzymatic, and Molecular Characterisation of a Portuguese Family With a Chronic Form of GM2-gangliosidosis B1 Variant.

GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings

Novel NKX2-5 Mutations Responsible for Congenital Heart Disease

Novel NKX2-5 Mutations Responsible for Congenital Heart Disease

Three Novel Mutations of the PAX6 Gene in Japanese Aniridia Patients

Fabry Disease: Twenty Novel Α-Galactosidase a Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes

Three Novel PHEX Gene Mutations in Japanese Patients With X-Linked Hypophosphatemic Rickets

Deficiency of the Hexosaminidase a Activator Protein in a Case of GM2 Gangliosidosis; Variant AB