Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

  1. Horga, A.
  2. Woodward, C.E.
  3. Mills, A.
  4. Pareés, I.
  5. Hargreaves, I.P.
  6. Brown, R.M.
  7. Bugiardini, E.
  8. Brooks, T.
  9. Manole, A.
  10. Remzova, E.
  11. Rahman, S.
  12. Reilly, M.M.
  13. Houlden, H.
  14. Sweeney, M.G.
  15. Brown, G.K.
  16. Polke, J.M.
  17. Gago, F.
  18. Parton, M.J.
  19. Pitceathly, R.D.S.
  20. Hanna, M.G.
Journal:
Human Genetics

ISSN: 1432-1203 0340-6717

Year of publication: 2019

Volume: 138

Issue: 11-12

Pages: 1313-1322

Type: Article

DOI: 10.1007/S00439-019-02075-9 GOOGLE SCHOLAR lock_openOpen access editor

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