Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00850.x/fullpdf
Reference8 articles.
1. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France;Claustres;Hum Mutat,2000
2. High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France;Des Georges;J Cyst Fibros,2004
3. Large genomic rearrangements in the CFTR gene contribute to CBAVD;Taulan;BMC Med Genet,2007
4. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis;Niel;J Med Genet,2004
5. A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening;Faà;J Mol Diagn,2006
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