Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation-Reference-Cited by-同舟云学术

Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation

Published:1995-04 Issue:1 Volume:236 Page:81-86
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Sugie Hideo,Sugie Yoko,Ito Masataka,Fukuda Tokiko,Nonaka Ikuya,Igarashi Yoshio

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference11 articles.

1. Fatal infantile form of muscle phosphorylase deficiency;DiMauro;Neurology,1978

2. Myophosphorylase deficiency: a new cause of infantile hypotonia simulating infantile muscular atrophy;De la Maza;Neurology,1980

3. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase;Burke;Proteins,1987

4. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease);Tsujino;N Engl J Med,1993

5. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases;Bartram;Hum Mol Genet,1993

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