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American Journal of Human Genetics logoLink to American Journal of Human Genetics
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. 1996 Aug;59(2):475–477.

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

C Gellera, C Meoni, B Castellotti, B Zappacosta, F Girotti, F Taroni, S DiDonato
PMCID: PMC1914734  PMID: 8755937

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Andrew S. E., Goldberg Y. P., Kremer B., Telenius H., Theilmann J., Adam S., Starr E., Squitieri F., Lin B., Kalchman M. A. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet. 1993 Aug;4(4):398–403. doi: 10.1038/ng0893-398. [DOI] [PubMed] [Google Scholar]
  2. Andrew S. E., Goldberg Y. P., Theilmann J., Zeisler J., Hayden M. R. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet. 1994 Jan;3(1):65–67. doi: 10.1093/hmg/3.1.65. [DOI] [PubMed] [Google Scholar]
  3. Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet. 1993 Aug;4(4):387–392. doi: 10.1038/ng0893-387. [DOI] [PubMed] [Google Scholar]
  4. Goldberg Y. P., McMurray C. T., Zeisler J., Almqvist E., Sillence D., Richards F., Gacy A. M., Buchanan J., Telenius H., Hayden M. R. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet. 1995 Oct;4(10):1911–1918. doi: 10.1093/hmg/4.10.1911. [DOI] [PubMed] [Google Scholar]
  5. Snell R. G., MacMillan J. C., Cheadle J. P., Fenton I., Lazarou L. P., Davies P., MacDonald M. E., Gusella J. F., Harper P. S., Shaw D. J. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet. 1993 Aug;4(4):393–397. doi: 10.1038/ng0893-393. [DOI] [PubMed] [Google Scholar]
  6. Trottier Y., Devys D., Imbert G., Saudou F., An I., Lutz Y., Weber C., Agid Y., Hirsch E. C., Mandel J. L. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet. 1995 May;10(1):104–110. doi: 10.1038/ng0595-104. [DOI] [PubMed] [Google Scholar]

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