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The OMMBID Blog

Cause of short stature in African Pygmies

  • June 7th, 2009

Molecular Genetics and Metabolism
Article in Press
The shortness of Pygmies is associated with severe under-expression of the Growth Hormone Receptor
Mauro Bozzola et al.

In this article, the authors observed a markedly reduced GHR gene expression in adult Pygmies, while the genetics cause for this remains to be uncovered.

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

Philippe Campeau

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

UCD cross-sectional study in the US

  • July 15th, 2008

Mefolinate (5-methyltetrahydrofolate) as a treatment of severe MTHFR deficiency

  • June 29th, 2008

MMBID 8e Archive Chapter 191 - Cystinuria

  • June 26th, 2008

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This blog is intended to create discussion that leads to a better understanding of diseases of human mutation.

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