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...

Full description

Bibliographic Details
Main Authors: Milad Ebrahimi, Mahdieh Behnam, Nafiseh Behranvand-jazi, Ladan Yari, Sajad Sheikh-kanlomilan, Mansoor Salehi, Pardis Tahmasebi, Mohaddeseh Amini, Mohaddeseh Behjati, Nafisehsadat Hosseini
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2017-01-01
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