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Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients
BACKGROUND: The p.Leu1077Pro CFTR mutation was firstly described in 1992 as a mild allele that confers a pancreatic sufficiency phenotype but the information collected in database CFTR2 lead to consider p.Leu1077Pro as a severe CF mutation. Although it is typical of Southern Italy, p.Leu1077Pro is n...
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| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2013
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3828422/ https://ncbi.nlm.nih.gov/pubmed/24225052 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-6-461 |
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