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First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele.
J Cyst Fibros. 2024 Jul;23(4):690-692. doi: 10.1016/j.jcf.2024.01.013. Epub 2024 Feb 5.
J Cyst Fibros. 2024.
PMID: 38320874
The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.
Diana A, Polizzi AM, Santostasi T, Ratclif L, Pantaleo MG, Leonetti G, Iusco DR, Gallo C, Conese M, Manca A.
Diana A, et al. Among authors: pantaleo mg.
J Hum Genet. 2016 Jun;61(6):473-81. doi: 10.1038/jhg.2016.15. Epub 2016 Feb 25.
J Hum Genet. 2016.
PMID: 26911355
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Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.
Polizzi A, Tesse R, Santostasi T, Diana A, Manca A, Logrillo VP, Cazzato MD, Pantaleo MG, Armenio L.
Polizzi A, et al. Among authors: pantaleo mg.
Genet Mol Biol. 2011 Jul;34(3):416-20. doi: 10.1590/S1415-47572011000300008. Epub 2011 Jul 1.
Genet Mol Biol. 2011.
PMID: 21931512
Free PMC article.
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