Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
about
Physical training for McArdle diseasePhysical training for McArdle diseaseNormal activities of AMP-deaminase and adenylate kinase in patients with McArdle disease.Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.Differential glucose metabolism in mice and humans affected by McArdle disease.Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
P2860
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P2860
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
description
2007 nî lūn-bûn
@nan
2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Analysis of spectrum and frequ ...... ication of 13 novel mutations.
@ast
Analysis of spectrum and frequ ...... ication of 13 novel mutations.
@en
type
label
Analysis of spectrum and frequ ...... ication of 13 novel mutations.
@ast
Analysis of spectrum and frequ ...... ication of 13 novel mutations.
@en
prefLabel
Analysis of spectrum and frequ ...... ication of 13 novel mutations.
@ast
Analysis of spectrum and frequ ...... ication of 13 novel mutations.
@en
P2093
P1433
P1476
Analysis of spectrum and frequ ...... ication of 13 novel mutations.
@en
P2093
Deschauer M
Morgenroth A
Schreiber H
P2888
P304
P356
10.1007/S00415-006-0447-X
P577
2007-04-03T00:00:00Z
P6179
1041307173