Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

BACKGROUND: Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparental disomy or mutations involving the imprinting center....

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Detalles Bibliográficos
Autores principales: Schüle, Birgitt, Albalwi, Mohammed, Northrop, Emma, Francis, David I, Rowell, Margaret, Slater, Howard R, Gardner, RJ McKinlay, Francke, Uta
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142316/
https://www.ncbi.nlm.nih.gov/pubmed/15877813
http://dx.doi.org/10.1186/1471-2350-6-18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142316/
https://www.ncbi.nlm.nih.gov/pubmed/15877813
http://dx.doi.org/10.1186/1471-2350-6-18

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