Bem RSD Author

Research Article Open Access

Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil

Author(s):

Otto PA, Deguti MM, Araujo TF, Barbosa ER, Bem RSD, Araujo FC and Cancado ELR

Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil

The present paper deals with the estimation of the overall frequency of ATP7B alleles determining Wilson disease (WD) and the population frequency of the condition in Brazil. Genealogical, demographic, and molecular data from 83 WD probands, studied at three distinct WD referral centers, were used for obtaining a population estimate for the overall frequency of alleles that in homozygous or compound heterozygous state determine the frequency of the condition in Brazil; the method we used exploits the relatively high proportion of consanguinity among parents of affected individuals compared with the proportio... view more»

DOI: 10.4172/lpma.1000226

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