Three new mutations in patients with myophosphorylase deficiency (McArdle disease).

We report three new mutations in patients with myophosphorylase deficiency (McArdle disease). A splice-junction mutation (G-to-A transition at the 5' end of intron 14) and a missense mutation (CTG to CCG at codon 291, changing an encoded leucine to a proline) were identified in Caucasian patien...

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Hlavní autoři: Tsujino, S., Shanske, S., Nonaka, I., Eto, Y., Mendell, J. R., Fenichel, G. M., DiMauro, S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918063/
https://ncbi.nlm.nih.gov/pubmed/8279469
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