Literature DB >> 19845690

CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.

M R Moya-Quiles, P Mondéjar-López, M D Pastor-Vivero, I González-Gallego, M J Juan-Fita, J M Egea-Mellado, P Carbonell, T Casals, A Fernández-Sánchez, M Sánchez-Solís, G Glover.   

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Year:  2009        PMID： 19845690     DOI： 10.1111/j.1399-0004.2009.01252.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.

Authors:  Senay Rueda-Nieto; Pedro Mondejar-Lopez; María-Pilar Mira-Escolano; Ana Cutillas-Tolín; Luis Alberto Maceda-Roldán; Julián Jesús Arense-Gonzalo; Joaquín A Palomar-Rodríguez
Journal:  Orphanet J Rare Dis       Date:  2022-06-13       Impact factor: 4.303

2.  Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis.

Authors:  Nikhil T Awatade; Inna Uliyakina; Carlos M Farinha; Luka A Clarke; Karina Mendes; Amparo Solé; Juan Pastor; Maria Margarida Ramos; Margarida D Amaral
Journal:  EBioMedicine       Date:  2014-12-17       Impact factor: 8.143
  2 in total

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