Imprinting-mutation mechanisms in Prader-Willi syndrome.

Microdeletions of a region termed the "imprinting center" (IC) in chromosome 15q11-q13 have been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who show epigenetic inheritance for this region that is consistent with a mutation in the imprinting process...

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Autors principals: Ohta, T, Gray, T A, Rogan, P K, Buiting, K, Gabriel, J M, Saitoh, S, Muralidhar, B, Bilienska, B, Krajewska-Walasek, M, Driscoll, D J, Horsthemke, B, Butler, M G, Nicholls, R D
Format: Artigo
Idioma:Inglês
Publicat: 1999
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377750/
https://ncbi.nlm.nih.gov/pubmed/9973278
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