Literature DB >> 9512313

A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency.

H Sugie1, Y Sugie, M Ito, T Fukuda.   

Abstract

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Year:  1998        PMID： 9512313     DOI： 10.1177/088307389801300212

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


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  5 in total

Review 1.  Genomics and genetics in the biology of adaptation to exercise.

Authors:  Claude Bouchard; Tuomo Rankinen; James A Timmons
Journal:  Compr Physiol       Date:  2011-07       Impact factor: 9.090

2.  Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.

Authors:  Tuhin Virmani; Michael Rotstein; Ronen Spiegel; Hasan O Akman; Salvatore DiMauro; Paul E Greene
Journal:  Mov Disord Clin Pract       Date:  2014-06-26

3.  Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

Authors:  Laurent R Chiarelli; Simone M Morera; Paola Bianchi; Elisa Fermo; Alberto Zanella; Alessandro Galizzi; Giovanna Valentini
Journal:  PLoS One       Date:  2012-02-14       Impact factor: 3.240

4.  Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.

Authors:  Giovanna Valentini; Maristella Maggi; Angel L Pey
Journal:  Biomolecules       Date:  2013-12-18

5.  A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

Authors:  Virginia Garcia-Solaesa; Pablo Serrano-Lorenzo; Maria Antonia Ramos-Arroyo; Alberto Blázquez; Inmaculada Pagola-Lorz; Mercè Artigas-López; Joaquín Arenas; Miguel A Martín; Ivonne Jericó-Pascual
Journal:  Genes (Basel)       Date:  2019-10-10       Impact factor: 4.096
  5 in total

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