Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both parents of Georgian and Ukrainian background had no personal or family history o...

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Bibliografiske detaljer

Principais autores:	Vassos Neocleous, Panayiotis K. Yiallouros, George A. Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C. Patsalis, Carolina Sismani, Leonidas A. Phylactou
Format:	Artigo
Sprog:	Inglês
Udgivet:	Wiley 2014-01-01
Serier:	Case Reports in Genetics
Online adgang:	http://dx.doi.org/10.1155/2014/613863
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