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Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.
Huntington's disease is a neuropsychiatric disorder with late age of onset, caused by an elongation of a (CAG)n repeat in the IT15 gene. This trinucleotide repeat has been studied by polymerase chain reaction amplification in 86 members of 43 Spanish families with Huntington's disease and...
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| Hlavní autoři: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
1996
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC486660/ https://ncbi.nlm.nih.gov/pubmed/8971113 |
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