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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Detalles Bibliográficos
Autores principales: Neocleous, Vassos, Yiallouros, Panayiotis K., Tanteles, George A., Costi, Constantina, Moutafi, Maria, Ioannou, Phivos, Patsalis, Philippos C., Sismani, Carolina, Phylactou, Leonidas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932727/
https://www.ncbi.nlm.nih.gov/pubmed/24649380
http://dx.doi.org/10.1155/2014/613863

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932727/
https://www.ncbi.nlm.nih.gov/pubmed/24649380
http://dx.doi.org/10.1155/2014/613863

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