Literature DB >> 11596659

A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.

C Meaney1, T Cranston, P Lee, S Genet.   

Abstract

This study reports a novel mutation which may be prevalent in Indian patients with glycogen storage disease type Ia.

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Year:  2001        PMID： 11596659     DOI： 10.1023/a:1010598109582

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

2.  Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

Authors:  K J Lei; L L Shelly; C J Pan; J B Sidbury; J Y Chou
Journal:  Science       Date:  1993-10-22       Impact factor: 47.728

3.  Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

Authors:  K J Lei; Y T Chen; H Chen; L J Wong; J L Liu; A McConkie-Rosell; J L Van Hove; H C Ou; N J Yeh; L Y Pan
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025
  3 in total
  1 in total

Review 1.  Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Authors:  Janice Y Chou; Brian C Mansfield
Journal:  Hum Mutat       Date:  2008-07       Impact factor: 4.878
  1 in total

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