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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: MacMillan, J C, Morrison, P J, Nevin, N C, Shaw, D J, Harper, P S, Quarrell, O W, Snell, R G
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1993
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016634/
https://ncbi.nlm.nih.gov/pubmed/8133497
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