The p.Val754Met variant, described in 1996 in a CF patient, has been considered a CF mutation. However, biochemical aspects, results of functional studies and, finally, the identification of a complex deletion removing exons 3 to 10 and 14b to 16 in cis of p.Val754Met in a CF patient, argue against
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements
β Scribed by Taulan, Magali; Guittard, Caroline; Theze, Corinne; Claustres, Mireille; Georges, Marie des
- Book ID
- 109849169
- Publisher
- Nature Publishing Group
- Year
- 2009
- Tongue
- English
- Weight
- 193 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1018-4813
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Cystic fibrosis (CF) is mainly caused by small molecular lesions of the CFTR gene; mutation detection methods based on conventional PCR do not allow the identification of all CF alleles in a population and large deletions may account for a number of these unidentified molecular lesions. It is only r
The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream o