Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation

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This database contains published literature on genetic associations and other human genome epidemiology

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• Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.  
  Molecular genetics & genomic medicine 2017 Nov 5 (6): 751-757.
  Ortiz Sofía C, Aguirre Santiago J, Flores Sofía, Maldonado Claudio, Mejía Juan, Salinas Lili
• Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.  
  Molecular genetics & genomic medicine 2017 Sep 5 (5): 481-494.
  Buleje Jose, Guevara-Fujita Maria, Acosta Oscar, Huaman Francia D P, Danos Pierina, Murillo Alexis, Pinto Joseph A, Araujo Jhajaira M, Aguilar Alfredo, Ponce Jaime, Vigil Carlos, Castaneda Carlos, Calderon Gabriela, Gomez Henry L, Fujita Ricar
• The angiotensin-converting enzyme insertion/deletion polymorphism rs4340 associates with habitual physical activity among European American adults.  
  Molecular genetics & genomic medicine 2017 Sep 5 (5): 524-530.
  Bruneau Michael, Angelopoulos Theodore J, Gordon Paul, Moyna Niall, Visich Paul, Zoeller Robert, Seip Rick, Bilbie Stephen, Thompson Paul, Devaney Joseph, Gordish-Dressman Heather, Hoffman Eric, Pescatello Linda
• A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.  
  Molecular genetics & genomic medicine 2017 Jul 5 (4): 360-372.
  Pilonetto Daniela V, Pereira Noemi F, Bonfim Carmem M S, Ribeiro Lisandro L, Bitencourt Marco A, Kerkhoven Lianne, Floor Karijn, Ameziane Najim, Joenje Hans, Gille Johan J P, Pasquini Ricar
• Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open-angle glaucoma.  
  Molecular genetics & genomic medicine 2017 Jul 5 (4): 323-335.
  Shah Mohd Hussain, Tabanera Noemi, Krishnadas Subbaiah Ramasamy, Pillai Manju R, Bovolenta Paola, Sundaresan Periasa

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