Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit
about
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB)A splice mutation in the PHKG1 gene causes high glycogen content and low meat quality in pig skeletal muscleMuscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of casesThe molecular background of glycogen metabolism disorders.Progress and problems in muscle glycogenosesMuscle glycogenoses.Diagnostic evaluation of rhabdomyolysis.Genomics and genetics in the biology of adaptation to exercise.Neuromuscular disorders of glycogen metabolism.Glycogen storage diseases: Diagnosis, treatment and outcome
P2860
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P2860
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit
description
1994 nî lūn-bûn
@nan
1994 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@ast
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@en
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@en-gb
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@nl
type
label
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@ast
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@en
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@en-gb
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@nl
prefLabel
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@ast
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@en
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@en-gb
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@nl
P2093
P356
P1476
Human muscle glycogenosis due ...... e isoform of the alpha subunit
@en
P2093
M W Kilimann
P R Clemens
P304
P356
10.1093/HMG/3.11.1983
P407
P577
1994-11-01T00:00:00Z