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.
Revue:
Human Genetics

ISSN: 1432-1203 0340-6717

Année de publication: 2019

Volumen: 138

Número: 11-12

Pages: 1313-1322

Type: Article

DOI: 10.1007/S00439-019-02075-9 GOOGLE SCHOLAR lock_openAccès ouvert editor

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