Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease-Reference-Cited by-同舟云学术

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

Published:2001-01 Issue:1 Volume:59 Page:48-51
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Martín MA,Rubio JC,García A,Fernández MA,Campos Y,Krawczak M,Cooper DN,Arenas J

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2001.590108.x/fullpdf

Reference14 articles.

1. The molecular genetic basis of myophosphorylase deficiency (McArdle's disease);Tsujino;Muscle Nerve,1995

2. A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease;Bruno;Neuromusc Disord,1999

3. Mutation analysis in myophosphorylase deficiency (McArdle's disease);Vorgerd;Ann Neurol,1998

4. A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease;Rubio;Neuromuscul Disord,2000

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