Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1998499 | Molecular Genetics and Metabolism | 2010 | 8 Pages |
Abstract
We have identified the first CYP11B2 gene defects in two Polish families associated with phenotypes of ASD type I. Analysis of the enzymatic function as a complementary procedure to genotyping revealed data for understanding the clinical phenotype of ASD. Molecular modeling of the mutated enzyme provided a rational basis for understanding the changed activities of the mutant proteins.
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Authors
Huy-Hoang Nguyen, Frank Hannemann, Michaela F. Hartmann, Ewa M. Malunowicz, Stefan A. Wudy, Rita Bernhardt,