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Article

Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).

Human biology - 1 Dec 1998

Lima M, Mayer F M, Coutinho P, Abade A

Abstract excerpt

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset. In the islands of the Azores (Portugal), MJD reaches the highest prevalence reported worldwide. It has been postulated that it is highly represented in the Azorean population as a result of a founder effect. To test this hypothesis, we reconstructed the ascending genealogies of the 32 Azorean families presently...

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PMID: 9825593

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Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).PMID 9825593Read ↗

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.Semantic proximity Read ↗

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Natural selection at the MJD locus: phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores.Semantic proximity Read ↗

Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature.Semantic proximity Read ↗

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.Semantic proximity Read ↗

Genetic structure and origin of peopling in the Azores islands (Portugal): the view from mtDNA.Semantic proximity Read ↗

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.Semantic proximity Read ↗

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageSemantic proximity Read ↗

Peopling of the Azores Islands (Portugal): data from the Y chromosome.Semantic proximity Read ↗

Genetic signature of the São Miguel Island population (Azores) assessed by 21 microsatellite loci.Semantic proximity Read ↗

Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies.Semantic proximity Read ↗

Population structure of São Miguel Island, Azores: a surname study.Semantic proximity Read ↗

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