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Array Comparative Genomic Hybridization (aCGH) Analysis in Prader–Willi Syndrome

Prader–Willi syndrome (PWS) is due to loss of paternally expressed genes in the 15q11–q13 region generally from a paternal 15q11–q13 deletion. The proximal deletion breakpoint in the 15q11–q13 region occurs at one of two sites located within either of two large duplicons allowing for identification...

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Pubblicato in:Am J Med Genet A
Autori principali: Butler, Merlin G., Fischer, William, Kibiryeva, Nataliya, Bittel, Douglas C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5438264/
https://ncbi.nlm.nih.gov/pubmed/18266248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32249
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