| Consequences of partial duplications of the human CFTR gene on cf diagnosis: Mutations or ectopic variations. | |
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MedLine Citation:
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PMID: 23261175 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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CFTR exon 10 and its flanking regions are duplicated in the human genome. These duplications present mutations compared to the normal exon 10 sequence. Due to the polymorphic sequence of the 3' intron 9 sequence, it may appear difficult to sequence exon 10 and some mutations described in this exon could, in fact, be variations observed in an ectopic duplicated sequence. In our previous work we described a methodology to carry out PCR only of exon 10 and not of ectopic regions. In this work, we analyzed mutations described in the CF data base as being CFTR mutations but also found in ectopic regions: c.1392G>T, c.1338_1339delAT, c.1235delC, and c.1247A>G. We have shown that these mutations appear to be authentic mutations in CFTR exon 10 and not ectopic variations in analyzed patients. These mutations validate the usefulness of our new strategy in the mutation analysis of this region of CFTR. |
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Authors:
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Ayman El-Seedy; Marie-Claude Pasquet; Thiery Bienvenu; Eric Bieth; Marie-Pierre Audrezet; Alain Kitzis; Véronique Ladeveze |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-12-20 |
Journal Detail:
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Title: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society Volume: - ISSN: 1873-5010 ISO Abbreviation: J. Cyst. Fibros. Publication Date: 2012 Dec |
Date Detail:
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Created Date: 2012-12-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101128966 Medline TA: J Cyst Fibros Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved. |
Affiliation:
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Institut de Physiologie et Biologie Cellulaires, CNRS FRE 3511, Université de Poitiers, 86022 Poitiers, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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