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Molecular analysis ...
Molecular analysis of juvenile Huntington disease : the major influence on (CAG)n repeat length is the sex of the affected parent.
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- Telenius, H (författare)
- Kanada
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Kremer, H P (författare)
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Theilmann, J (författare)
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visa fler...
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Andrew, S E (författare)
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Almqvist, E (författare)
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Anvret, M (författare)
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Greenberg, C (författare)
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Greenberg, J (författare)
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Lucotte, G (författare)
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Squitieri, F (författare)
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(creator_code:org_t)
- Oxford University Press (OUP), 1993
- 1993
- Engelska.
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 2:10, s. 1535-40
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Juvenile Huntington disease (HD), characterised by onset of symptoms before the age of 20 with rigidity and intellectual decline, is associated with a predominance of affected fathers. In order to investigate the molecular basis for the observed parental effect, we have analysed the CAG trinucleotide repeat within the HD gene in 42 juvenile onset cases from 34 families. A highly significant correlation was found between the repeat length and age of onset (r = -0.86, p < 10(-7) and it was determined that the sex of transmitting parent was the major influence on CAG expansion leading to earlier onset. Neither the size of the parental upper allele, the age of parent at conception of juvenile onset child, nor the grandparental sex conferred a significant effect upon expansion. Affected sib pair analysis of CAG repeat length, however, revealed a high correlation (r = 0.91, p < 10(-7). Furthermore, analysis of nuclear and extended families showed a familial predisposition to juvenile onset disease. This study demonstrates that the sex of transmitting parent is the major influence on trinucleotide expansion and clinical features in juvenile Huntington disease.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Omvårdnad (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Nursing (hsv//eng)
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- ref (ämneskategori)
- art (ämneskategori)
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Telenius, H
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Kremer, H P
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Theilmann, J
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Andrew, S E
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Almqvist, E
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Anvret, M
-
visa fler...
-
Greenberg, C
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Greenberg, J
-
Lucotte, G
-
Squitieri, F
-
visa färre...
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- MEDICIN OCH HÄLSOVETENSKAP
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Human Molecular ...
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