Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients
Background: Mutations in the acid alpha-glucosidase (GAA) gene usually lead to reduced GAA activity. In this study, we analyzed the mutations of GAA and GAA enzyme activity from one sibling suspected Pompe disease and their first-degree relatives. Materials and Methods: In this cross-sectional study...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2017-01-01
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Series: | Journal of Research in Medical Sciences |
Subjects: | |
Online Access: | http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2017;volume=22;issue=1;spage=100;epage=100;aulast=Ebrahimi |