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Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

Article Abstract:

The article discusses the identification of the sequence alterations in the cytochrome P450-7B1 (CYP7B1), the gene which is found to be highly associated with the hereditary spastic paraplegia (HSP). The results prove that such alterations lead to defective cholesterol homeostasis in motor-neuron degeneration.

Author: Siddique, Teepu, Patton, Michael A., Yi Yang, Laing, Nigel G., Tsaousidou, Maria K., Ouahchi, Karim, Warner, Tom T., Simpson, Michael A., Wilkinson, Philip A., Madrid, Ricardo E., Patel, Heema, Hentati, Faycal, Lamont, Philippa J., Crosby, Andrew H.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Genetic aspects, Cholesterol metabolism, Paralysis, Spastic, Spastic paraplegia

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Simultaneouly correcting for population stratification and for genotyping error in case-control association studies

Article Abstract:

A method of simultaneously correcting for the bias arising population stratification and for genotyping error in case control studies was developed. Thus the corrected test is robust against misspecification of the genetic model.

Author: K.F.Cheng, W.J.Lin
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
United States, Evaluation, Population genetics, Genetic research

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