Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

Patients with Angelman syndrome (AS) and Prader-Willi syndrome with mutations in the imprinting process have biparental inheritance but uniparental DNA methylation and gene expression throughout band 15q11-q13. In several of these patients, microdeletions upstream of the SNRPN gene have been identif...

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Autors principals: Ohta, T, Buiting, K, Kokkonen, H, McCandless, S, Heeger, S, Leisti, H, Driscoll, D J, Cassidy, S B, Horsthemke, B, Nicholls, R D
Format: Artigo
Idioma:Inglês
Publicat: 1999
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377749/
https://ncbi.nlm.nih.gov/pubmed/9973277
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