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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
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 segment of 4p16.3 as theExpand
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Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.
Myotonic dystrophy is a complex neuromuscular disorder associated with DNA expansion mutations in two different genes. In DM1 a CTG repeat in the 3'-untranslated region of DMPK is expanded, whereasExpand
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Practical genetic counselling
General Aspects of Genetic Counselling Genetic Counselling: an Introduction Genetic Counselling in Mendelian Disorders Common Disorders and Genetic Counselling Chromosome Abnormalities MolecularExpand
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Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.
A population-based study in south-east Wales (population 668,100) identified 135 patients with von Recklinghausen neurofibromatosis (prevalence 20/10(5]. In addition to multiple café-au-lait spotsExpand
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The epidemiology of Huntington's disease
  • P. Harper
  • Biology, Medicine
  • Human Genetics
  • 1 June 1992
SummaryThe available information on the world distribution of Huntington's disease (HD) from population surveys and death rate analysis is summarised and discussed in the light of genetic studies. ItExpand
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Mutations in TITF-1 are associated with benign hereditary chorea.
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC familiesExpand
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The case against
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Huntington's disease
Introduction - an historical background, Peter Harper and Michael Morris the clinical neurology of Huntington's disease, Oliver Quarrell and Peter Harper psychiatric aspects of Huntington's disease,Expand
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Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.
Boys with X-linked hypohidrotic ectodermal dysplasia and their families were studied. Many suffered severe illness in early childhood and nearly 30% died; many had feeding problems, severe fever,Expand
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Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin.
We detected an interaction of the N-terminus of huntingtin (htt171) with the C-terminal region of the nuclear receptor co-repressor (N-CoR) using the yeast two-hybrid system. This interaction wasExpand
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