Rapid and Cost-Effective Method for the Detection of the c.533G>A Mutation in theHEXAGene-Reference-Cited by-同舟云学术

Rapid and Cost-Effective Method for the Detection of the c.533G>A Mutation in theHEXAGene

Published:2011-03 Issue:3 Volume:15 Page:123-126
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Ribeiro Diogo¹,Duarte Ana Joana¹,Amaral Olga¹

Affiliation:

1. Departamento de Genética–Unidade I&D, CGMJM—Centro de Genética Médica Dr. Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA, IP), Porto, Portugal.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0129

Reference10 articles.

1. Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.

2. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay

3. Juvenile GM2Gangliosidosis Variant B1: Clinical and Biochemical Study in Seven Patients

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