(PDF) Molecular Basis of Adult-Onset and Chronic GM2

Molecular Basis of Adult-Onset and Chronic GM2 Gangliosidoses in Patients of Ashkenazi Jewish Origin: Substitution of Serine for Glycine at Position 269 of the -Subunit of -Hexosaminidase

Proceedings of the National Academy of Sciences of the United States of America - United States

doi 10.1073/pnas.86.14.5625-a

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July 1, 1989

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Proceedings of the National Academy of Sciences

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Molecular Basis of Adult-Onset and Chronic GM2 Gangliosidoses in Patients of Ashkenazi Jewish Origin: Substitution of Serine for Glycine at Position 269 of the -Subunit of -Hexosaminidase

Proceedings of the National Academy of Sciences of the United States of America - United States

doi 10.1073/pnas.86.14.5625-a

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

A Pro504→ Ser Substitution in the Β-Subunit of Β-Hexosaminidase a Inhibits Α-Subunit Hydrolysis of GM2Ganglioside, Resulting in Chronic Sandhoff Disease

Biochemical and Molecular Diagnosis of Erythropoietic Protoporphyria in an Ashkenazi Jewish Family

Partial Deficiency of Beta-Hexosaminidase Activity in Canine GM2-gangliosidosis.

The GM2 Gangliosidoses Datanases: Allelic Variation at the HEXA, HEXB, and GMWA Gene Loci

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

Nonsense Mutation in the Phosphofructokinase Muscle Subunit Gene Associated With Retention of Intron 10 in One of the Isolated Transcripts in Ashkenazi Jewish Patients With Tarui Disease.

Glycine/Serine Polymorphism at Position 38 Influences KCNE1 Subunit^|^rsquo;s Modulatory Actions on Rapid and Slow Delayed Rectifier K+ Currents

Identification of the Molecular Defect in Factor IX Chapel Hill: Substitution of Histidine for Arginine at Position 145.

Signatures of Founder Effects, Admixture, and Selection in the Ashkenazi Jewish Population