Literature DB >> 8281161

A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1).

F Takakubo1, D R Thorburn, H H Dahl.   

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Year:  1993        PMID： 8281161     DOI： 10.1093/hmg/2.11.1961

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  3 in total

Review 1.  Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

Authors:  H H Dahl
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

2.  Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.

Authors:  M Ito; E Naito; I Yokota; E Takeda; J Matsuda; M Hirose; H Sejima; H Aiba; H Hojo; Y Kuroda
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

Authors:  Kristin K Deeb; Jirair K Bedoyan; Raymond Wang; Leighann Sremba; Molly C Schroeder; George J Grahame; Monica Boyer; Shawn E McCandless; Douglas S Kerr; Shulin Zhang
Journal:  Mol Genet Metab Rep       Date:  2014-08-28
  3 in total

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