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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Dettagli Bibliografici
Autori principali: Neocleous, Vassos, Yiallouros, Panayiotis K., Tanteles, George A., Costi, Constantina, Moutafi, Maria, Ioannou, Phivos, Patsalis, Philippos C., Sismani, Carolina, Phylactou, Leonidas A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi Publishing Corporation 2014
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3932727/
https://ncbi.nlm.nih.gov/pubmed/24649380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/613863
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