Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1-Reference-Cited by-同舟云学术

Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1

Published:1998-12 Issue:8 Volume:21 Page:846-852
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Hirono H.,Shoji Y.,Takahashi T.,Sato W.,Takeda E.,Nishijo T.,Kuroda Y.,Nishigaki T.,Inui K.,Takada G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005422819207/fullpdf

Reference7 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);Burwinkel;Hum Mol Genet,1996

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

3. 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;Hirono;Biochem Mol Biol Int,1995

4. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction;Orita;Genomics,1989

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