Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by the onset of non-progressive chorea in childhood and the absence of cognitive impairment. Using primers flanking the (CAG)n repeat in IT15, expansion of which is associated with HD, we have detected an abnormal PCR...

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Main Authors: MacMillan, J C, Morrison, P J, Nevin, N C, Shaw, D J, Harper, P S, Quarrell, O W, Snell, R G
Format: Artigo
Jezik:Inglês
Izdano: 1993
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016634/
https://ncbi.nlm.nih.gov/pubmed/8133497
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