Molecular Characterization of a Patient Presumed to Have Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During mo...

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Detalles Bibliográficos
Autores principales: Falaleeva, Marina, Sulsona, Carlos R., Zielke, Horst R., Currey, Kathleen M., de la Grange, Pierre, Aslanzadeh, Vahid, Driscoll, Daniel J., Stamm, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Libertas Academica 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656643/
https://www.ncbi.nlm.nih.gov/pubmed/23700380
http://dx.doi.org/10.4137/CCRep.S11510

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