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Hindi La Prensa MedicaISSN: 0032-745X
Otto PA Author
Subjects of specialization
Affiliation
Wilson?s disease; Gene frequency estimation; ATP7B alleles
Nelson Marlborough Institute of Technology | NMIT
Biography
Otto PA was working as an Associate Professor in the Department of Information Technology at the Nelson Marlborough Institute of Technology and he has research publications on Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil
Publications
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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