Abstract

COLLAZO MESA, Teresa. Cystic fibrosis: more frequent mutations in world population. Rev Cubana Invest Bioméd [online]. 2008, vol.27, n.2, pp. 0-0. ISSN 1561-3011.

Cystic fibrosis (FC) is the autosomal recessive disease commonest in Caucasian population; its incidence is in a rank between 1 in 1700, and 1 in 7700. Since its cloning, regulator gen of FQ (CFTR) transmembrane and the identification of main F508del mutation, more of 1 300 mutations have benn reported. Number and frequency of these mutations hange according to ethnic origin, and geographical localization of population

Keywords : Cystic fibrosis; CFTR gen; CFTR protein; mutations; polymorphs.

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