Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency
Author:
Affiliation:
1. Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences
Publisher
Tohoku University Medical Press
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Link
http://www.jstage.jst.go.jp/article/tjem/200/1/200_1_47/_pdf
Reference15 articles.
1. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)
2. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)
3. Liver Glycogenosis Due to Phosphorylase Kinase Deficiency: PHKG2 Gene Structure and Mutations Associated with Cirrhosis
4. Localization of a New Type of X-Linked Liver Glycogenosis to the Chromosomal Region Xp22 Containing the Liver α-Subunit of Phosphorylase Kinase (PHKA2)
5. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease
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1. Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases;Frontiers in Genetics;2022-08-29
2. A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature;Clinica Chimica Acta;2020-09
3. Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases;Molecular Genetics & Genomic Medicine;2020-08-08
4. Mutation in PHKA2 leading to childhood glycogen storage disease type IXa;Medicine;2019-11
5. Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients;Molecular Genetics & Genomic Medicine;2019-09-11
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