Search: (L773:1460 2083 OR L773:1460 2083 OR L773:0964 6906) srt2:(1995-1999)
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Increased instabili...
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population.
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- Goldberg, Y P (author)
- Kanada
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McMurray, C T (author)
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Zeisler, J (author)
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Almqvist, E (author)
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Sillence, D (author)
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Richards, F (author)
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Gacy, A M (author)
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Buchanan, J (author)
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Telenius, H (author)
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Hayden, M R (author)
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(creator_code:org_t)
- Oxford University Press (OUP), 1995
- 1995
- English.
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 4:10, s. 1911-8
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- We have directly compared intergenerational stability of intermediate alleles (IAs) derived from new mutation families (IANM) for Huntington disease (HD) with IAs in the general population (IAGP) which occur in approximately 1 in 50 persons. Analysis of meiotic events in blood and sperm reveals that IANM are significantly more unstable than IAGP despite similar size. However, for both IANM and IAGP CAG changes were small and risks for inheriting an expansion into the HD affected range were low. Sequence analysis reveals that the CAG tract is generally interrupted by a penultimate CAA in IAGP, IANM and alleles in the affected range. In one new mutation family, however, two A-->G mutations result in a pure CAG tract which is associated with very marked instability. These mutations alter the predicted DNA hairpin structure with a predicted increase in the likelihood of large expansion, supporting the model that hairpin loop formation plays an important role in trinucleotide instability.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Omvårdnad (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Nursing (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Goldberg, Y P
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McMurray, C T
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Zeisler, J
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Almqvist, E
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Sillence, D
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Richards, F
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show more...
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Gacy, A M
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Buchanan, J
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Telenius, H
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Hayden, M R
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Health Sciences
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and Nursing
- Articles in the publication
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Human Molecular ...
- By the university
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Marie Cederschiöld högskola