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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Detalhes bibliográficos
Main Authors: Neocleous, Vassos, Yiallouros, Panayiotis K., Tanteles, George A., Costi, Constantina, Moutafi, Maria, Ioannou, Phivos, Patsalis, Philippos C., Sismani, Carolina, Phylactou, Leonidas A.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2014
Assuntos:
Case Report
Acesso em linha: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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