Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.
Orphanet Journal Of Rare Diseases
Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA
Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.
Biomed Research International
Paz-Y-Miño, César C; Zambrano, Ana Karina AK; Ruiz-Cabezas, Juan Carlos JC; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Guerrero, Santiago S; López-Cortés, Andrés A; Pérez-Villa, Andy A; Guevara-Ramírez, Patricia P; Yumiceba, Verónica V; Leone, Paola E PE
Publication Date: 2020
Variant appearance in text: CFTR: 1352G>T; Gly451Val
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA