A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

No abstract is available for this paper.

• Publication year

  1993

• Venue

  Cell

• Publication date

  1993-03-26

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/0092-8674(93)90585-EPMID 8458085
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A point mutation in the FMR-1 gene associated with fragile X mental retardation

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• Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.

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• Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

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• Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification

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• Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

  1992influential reference
• Recombination of 4p16 DNA markers in an unusual family with Huntington disease.

  1992cited by this paper
• Cloning of the essential myotonic dystrophy region and mapping of the putative defect

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• Fragile-X syndrome: unique genetics of the heritable unstable element.

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• The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.

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• An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

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• The genomic structure of the human skeletal muscle sodium channel gene.

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• The Huntington's disease candidate region exhibits many different haplotypes

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• Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region

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• Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

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• Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.

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• Instability versus predictability: the molecular diagnosis of myotonic dystrophy.

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• Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.

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• A recombination event that redefines the Huntington disease region.

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• Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

  1992cited by this paper
• Unstable DNA sequence in myotonic dystrophy.

  1992cited by this paper
• Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

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• Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

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• Malaria, bednets, and mortality.

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• New DNA markers in the Huntington's disease gene candidate region

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• Complex patterns of linkage disequilibrium in the Huntington disease region.

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• Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries.

  1991cited by this paper
• Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

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• Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

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• Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

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• Mapping of cosmid clones in Huntington's disease region of chromosome 4

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• Exon amplification: a strategy to isolate mammalian genes based on RNA splicing.

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• Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

  1991cited by this paper
• Absence of expression of the FMR-1 gene in fragile X syndrome.

  1991cited by this paper
• Increased recombination adjacent to the Huntington disease-linked D4S10 marker.

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• A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

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• Defined physical limits of the Huntington disease gene candidate region.

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• Generation and characterization of irradiation hybrids of human chromosome 4

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• The direct screening of cosmid libraries with YAC clones.

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• Huntington's disease

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• Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation.

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• A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

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• Basic local alignment search tool.

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• Huntington disease: no evidence for locus heterogeneity.

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• Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.

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• Clustering of multiallele DNA markers near the Huntington's disease gene.

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• Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.

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• Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease

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• Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene.

  1988cited by this paper
• Homozygotes for Huntington's disease

  1987cited by this paper
• Huntington's disease. Pathogenesis and management.

  1986cited by this paper
• DNA markers for nervous system diseases.

  1984cited by this paper
• A polymorphic DNA marker genetically linked to Huntington's disease

  1983cited by this paper
• DNA sequencing with chain-terminating inhibitors.

  1977cited by this paper
• EXCERPTA MEDICA.

  1974cited by this paper
• Juvenile Huntington's chorea

  1968cited by this paper

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