| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833842 | Molecular Genetics and Metabolism | 2011 | 5 Pages |
Abstract
⺠There is a high prevalence (1:5000) of MPS VI in the region of Monte Santo/BA/Brazil. ⺠We characterized the ARSB gene molecular background of these patients. ⺠All patients were found to be homozygous for the p.H178L mutation. ⺠We built haplotypes using intragenic SNPs to check for a possible common origin. ⺠We reinforce the need of a comprehensive community genetics program for this area.
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Authors
Fabiana Moura Costa-Motta, Angelina Xavier Acosta, Kiyoko Abé-Sandes, Fernanda Bender, Ida Vanessa D. Schwartz, Roberto Giugliani, Sandra Leistner-Segal,