Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II - Wikidata - awgldk - TriplyDB

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II

http://www.wikidata.org/entity/Q24540054

about

Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases Self-association of the alpha subunit of phosphorylase kinase as determined by two-hybrid screening.Genome-wide association analysis of thirty one production, health, reproduction and body conformation traits in contemporary U.S. Holstein cows.Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.Progress and problems in muscle glycogenoses PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.Reversible transition from a hypertrophic to a dilated cardiomyopathy.Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.Expressed phosphorylase b kinase and its alphagammadelta subcomplex as regulatory models for the rabbit skeletal muscle holoenzyme Glycogen storage diseases: Diagnosis, treatment and outcome

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P2860

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II

http://www.wikidata.org/entity/Q24540054

description

1999 nî lūn-bûn

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1999 թուականի Յունիսին հրատարակուած գիտական յօդուած

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1999 թվականի հունիսին հրատարակված գիտական հոդված

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1999年の論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

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name

Complete genomic structure and ...... ver glycogenosis type I and II

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Complete genomic structure and ...... ver glycogenosis type I and II

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Complete genomic structure and ...... ver glycogenosis type I and II

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type

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Complete genomic structure and ...... ver glycogenosis type I and II

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Complete genomic structure and ...... ver glycogenosis type I and II

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Complete genomic structure and ...... ver glycogenosis type I and II

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Complete genomic structure and ...... ver glycogenosis type I and II

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Complete genomic structure and ...... ver glycogenosis type I and II

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Complete genomic structure and ...... ver glycogenosis type I and II

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Complete genomic structure and ...... ver glycogenosis type I and II

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P2860

Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency

The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit

X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

Isolation and nucleotide sequence of a cDNA encoding human calmodulin

X-linked liver glycogenosis: localization and isolation of a candidate gene

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