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Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases.

Huntington's disease (HD) is associated with expansion of a CAG repeat in a new gene. We have recently defined a premutation in a paternal allele of 30 to 38 CAG repeats in the HD gene which is greater than that seen in the general population (< 30 repeats) but below the range seen in patien...

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Hlavní autoři: Goldberg, Y P, Andrew, S E, Theilmann, J, Kremer, B, Squitieri, F, Telenius, H, Brown, J D, Hayden, M R
Médium: Artigo
Jazyk:Inglês
Vydáno: 1993
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016629/
https://ncbi.nlm.nih.gov/pubmed/8133509
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