Literature DB >> 7705849

Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.

M Gossen1, A Wüllrich, M W Kilimann.   

Abstract

A polymorphic complex repeat including two (TG)n stretches was identified in the intron following codon 26 of the human gene encoding the muscle isoform of the phosphorylase kinase alpha subunit (PHKA1). It should be a useful marker for linkage analysis of families with heritable phosphorylase kinase deficiency and for gene mapping in the vicinity of the X inactivation center.

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Year:  1995        PMID： 7705849     DOI： 10.1007/bf00208982

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

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

Authors:  A Wüllrich; C Hamacher; A Schneider; M W Kilimann
Journal:  J Biol Chem       Date:  1993-11-05       Impact factor: 5.157

2.  Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.

Authors:  M Wehner; P R Clemens; A G Engel; M W Kilimann
Journal:  Hum Mol Genet       Date:  1994-11       Impact factor: 6.150

3.  Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.

Authors:  A Schneider; J J Davidson; A Wüllrich; M W Kilimann
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

4.  2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.

Authors:  R G Lafrenière; C J Brown; S Rider; J Chelly; P Taillon-Miller; A C Chinault; A P Monaco; H F Willard
Journal:  Hum Mol Genet       Date:  1993-08       Impact factor: 6.150

5.  Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.

Authors:  U Francke; B T Darras; N F Zander; M W Kilimann
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025
  5 in total
  1 in total

1.  Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center.

Authors:  Kun Huang; Hui-Qian Duan; Qiu-Xiang Li; Yue-Bei Luo; Fang-Fang Bi; Huan Yang
Journal:  Front Neurol       Date:  2022-08-11       Impact factor: 4.086
  1 in total

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