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Respected Medical Geneticist Sir Peter Harper Dies at 81
The Cardiff University researcher was famous both for his work on genetic disorders and for his documentation of the history of his field.
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Research findings and data from the National Library of Medicine
PubMed articles
Congenital myotonic dystrophy in Britain. II. Genetic basis
Genetic analysis of 54 sibships containing 70 patients with congenital myotonic dystrophy has shown paternal transmission in only one case, the disorder being maternally …
Genetic prediction and family structure in Huntington's chorea
A deoxyribonucleic acid marker linked to the locus for Huntington's chorea exists, but its possible use in the prediction of this disorder depends on the pedigree structu …
Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q
The order of fourteen polymorphic markers localised to the long arm of human chromosome 19 has been established by multipoint mapping in a set of 40 CEPH (Centre d'Etude …
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group
The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small …
Presymptomatic testing for late-onset genetic disorders: lessons from Huntington's disease
Huntington's disease is an inherited, neurodegenerative disorder, usually of adult onset. Since the identification of linked markers, more than 1000 presymptomatic tests …
Some pioneers of European human genetics
Some of the pioneers of human genetics across Europe are described, based on a series of 100 recorded interviews made by the author. These interviews, and the memories of …
Human genetics in troubled times and places
The development of human genetics world-wide during the twentieth century, especially across Europe, has occurred against a background of repeated catastrophes, including …
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