Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.
作者信息
Stevanin G, Cancel G, Didierjean O, Dürr A, Abbas N, Cassa E, Feingold J, Agid Y, Brice A
出版信息
Am J Hum Genet. 1995 Nov;57(5):1247-50.
Abstract
摘要
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本文引用的文献
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Neurobiol Dis. 1994 Nov;1(1-2):79-82. doi: 10.1006/nbdi.1994.0010.
2
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.
Hum Mol Genet. 1995 Jul;4(7):1137-46. doi: 10.1093/hmg/4.7.1137.
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Clinical features and classification of inherited ataxias.
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The gene for Machado-Joseph disease maps to human chromosome 14q.
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Population studies of the fragile X: a molecular approach.
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A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.
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A complex mutable polymorphism located within the fragile X gene.
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