McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Item
http://www.wikidata.org/entity/Q38443406
Rodent models for resolving extremes of exercise and health.Genes and exercise intolerance: insights from McArdle disease.Muscle fiber type proportion and size is not altered in mcardle disease.Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.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.Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.Clinical utility gene card for McArdle disease.Whole exome sequencing of rare aggressive breast cancer histologies.Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.
P2860

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Item
http://www.wikidata.org/entity/Q38443406
description
2015 nî lūn-bûn
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2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
@en
type
label
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
@en
prefLabel
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698