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The association of Angelman's syndrome with deletions within 15q11-13.

The inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small del...

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Hlavní autoři: Pembrey, M, Fennell, S J, van den Berghe, J, Fitchett, M, Summers, D, Butler, L, Clarke, C, Griffiths, M, Thompson, E, Super, M
Médium: Artigo
Jazyk:Inglês
Vydáno: 1989
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015553/
https://ncbi.nlm.nih.gov/pubmed/2918545
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