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Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis

Cystic fibrosis, a common autosomal recessive genetic disorder among Caucasians, is caused by defects in the transmembrane conductance regulatory (CFTR) gene. The analysis of CFTR gene mutations is useful to better characterize the disease, and for preconceptional screening, prenatal and preimplanta...

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Détails bibliographiques
Auteurs principaux: Farjadian, Shirin, Moghtaderi, Mozhgan, Zuntini, Roberta, Ferrari, Simona
Format: Artigo
Langue:Inglês
Publié: Baishideng Publishing Group Inc 2014
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4133434/
https://ncbi.nlm.nih.gov/pubmed/25133155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v2.i8.395
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