| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8315985 | Clinica Chimica Acta | 2011 | 6 Pages |
Abstract
âºFirst study on molecular defect in Tunisian MPSIII patients. âºMolecular characterization and clinical finding in 13 patients from 12 families. âºDescription of 11 different mutations of which 8 are reported here for the first time. âºLarge-scale deletion of 7093 bp (SGSH exons 1-5, SLC26A11 exon 1-part of the exon 2).
Keywords
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Authors
S. Ouesleti, V. Brunel, H. Ben Turkia, H. Dranguet, A. Miled, N. Miladi, M.F. Ben Dridi, A. Lavoinne, P. Saugier-Veber, S. Bekri,