Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay-Reference-Cited by-同舟云学术

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

Published:2008-02 Issue:2 Volume:29 Page:277-283
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Nogales-Gadea Gisela,Rubio Juan Carlos,Fernandez-Cadenas Israel,Garcia-Consuegra Ines,Lucia Alejandro,Cabello Ana,Garcia-Arumi Elena,Arenas Joaquin,Andreu Antoni L.,Martín Miguel A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20649/fullpdf

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3. McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene;Bartram;Biochim Biophys Acta,1994

4. Molecular study in a large series of French patients with McArdle's disease;Bruno;J Neurol,2000

5. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort;Bruno;Hum Mutat,2006

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