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• W1967050619 abstract "Amyotrophic lateral sclerosis is a progressive neurologic disorder that commonly results in paralysis and death. Despite more than a century of research, no cause of, cure for, or means of preventing this disorder has been found. In a minority of cases, it is familial and inherited as an autosomal dominant trait with age-dependent penetrance. In contrast to the sporadic form of amyotrophic lateral sclerosis, the familial form provides the opportunity to use molecular genetic techniques to localize an inherited defect. Furthermore, such studies have the potential to discover the basic molecular defect causing motor-neuron degeneration. gene causing this disease to four DNA markers on the long arm of chromosome 21. Multipoint linkage analyses demonstrated linkage between the gene and these markers. The maximum lod score — 5.03 — was obtained 10 centimorgans distal (telomeric) to the DNA marker D21S58. There was a significant probability (P<0.0001 ) of genetic-locus heterogeneity in the families." @default.
• W1967050619 created "2016-06-24" @default.
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• W1967050619 date "1991-05-16" @default.
• W1967050619 modified "2023-09-27" @default.
• W1967050619 title "Linkage of a Gene Causing Familial Amyotrophic Lateral Sclerosis to Chromosome 21 and Evidence of Genetic-Locus Heterogeneity" @default.
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• W1967050619 doi "https://doi.org/10.1056/nejm199105163242001" @default.
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