Identification of Alu-mediated, large deletion-spanning introns 19–26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency)-Reference-Cited by-同舟云学术

Identification of Alu-mediated, large deletion-spanning introns 19–26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency)

Published:2007-09 Issue:1-2 Volume:92 Page:179-182
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Fukao Toshiyuki,Zhang Gaixiu,Aoki Yusuke,Arai Takahiro,Teramoto Takahide,Kaneko Hideo,Sugie Hideo,Kondo Naomi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference13 articles.

1. Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II;Hendrickx;Am. J. Hum. Genet.,1999

2. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene;Burwinkel;Hum. Genet.,1998

3. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2);Burwinkel;Hum. Mol. Genet.,1996

4. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase;Hendrickx;Hum. Mol. Genet.,1996

5. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease;Hendrickx;Hum. Mol. Genet.,1995

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4. Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons;Gene;2018-07

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