Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, Portugal

作者: Álvaro Beleza , Filomena Horta Correia , Marta Barreto da Silva , Aida Fernandes , A.M. Vicente

DOI:

关键词: Health examinationHereditary hemochromatosisPediatricsEuropean commissionGene mutationAlpha 1-antitrypsin deficiencyMedicinePortuguese

摘要: The pilot study of the Portuguese Component European Health Examination Survey (EHES) project has received funding from European Commission/DG Sanco (Agreement number: 20092301 – EHES JA EAHC). This study also Foundation for Science and Technology (FCT) (Project Reference: PTDC/SAU-ESA/101743/2008).

参考文章(5)
Cathrine J. Wheeler, Kris V. Kowdley, Hereditary hemochromatosis: a review of the genetics, mechanism, diagnosis, and treatment of iron overload. Comprehensive Therapy. ,vol. 32, pp. 10- 16 ,(2006) , 10.1385/COMP:32:1:10
Carla S Cardoso, Pedro Oliveira, Graça Porto, Christian Oberkanins, Mónica Mascarenhas, Pedro Rodrigues, Fritz Kury, Maria de Sousa, Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal European Journal of Human Genetics. ,vol. 9, pp. 843- 848 ,(2001) , 10.1038/SJ.EJHG.5200723
FJ De Serres, I Blanco, E Fernández-Bustillo, Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain Clinical Genetics. ,vol. 63, pp. 490- 509 ,(2003) , 10.1034/J.1399-0004.2003.00078.X
Ignacio Blanco, FJ De Serres, E Fernandez-Bustillo, B Lara, M Miravitlles, Estimated numbers and prevalence of PI*S and PI*Z alleles of α1-antitrypsin deficiency in European countries European Respiratory Journal. ,vol. 27, pp. 77- 84 ,(2006) , 10.1183/09031936.06.00062305