Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene
β Scribed by Magali Taulan; Victoria Viart; Corinne Theze; Caroline Guittard; Jean-Pierre Altieri; Carine Templin; Laurent Mely; Mireille Claustres; Marie des Georges
- Book ID
- 116508824
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 461 KB
- Volume
- 500
- Category
- Article
- ISSN
- 0378-1119
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We describe a novel type of complex genetic rearrangement in the iduronate-2-sulfatase (IDS) gene of a severely affected MPSII patient. Southern blot analysis indicated an intragenic deletion of exons 5 and 6. The deletion spans 5,581 bp. Sequencing of the deletion junctions revealed a complex rearr