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The OMMBID Blog

Succinate dehydrogenase and leukoencephalopathy

  • July 27th, 2009

A gene encoding a protein essential for the assembly of succinate dehydrogenase has been implicated in an infantile leukoencephalopathy.

Nat Genet. 2009 May 24. [Epub ahead of print]

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Ghezzi D et al.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

Mitochondrial carrier and sideroblastic anemia

  • July 27th, 2009

New cause of CoQ10 deficiency

  • July 27th, 2009

Cause of short stature in African Pygmies

  • June 7th, 2009

MPS VI gene therapy pre-clinical model

  • June 7th, 2009

ASHG

  • June 7th, 2009

Deletions in OTC

  • March 22nd, 2009

ICIEM

  • March 22nd, 2009

New Krebs cycle defect

  • October 6th, 2008

ICIEM next meeting

  • September 6th, 2008

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