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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Tsujino, S., Shanske, S., Nonaka, I., Eto, Y., Mendell, J. R., Fenichel, G. M., DiMauro, S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1994
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918063/
https://ncbi.nlm.nih.gov/pubmed/8279469
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller