Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

BACKGROUND: Prader-Willi syndrome (PWS) is a neurobehavioral disorder characterized by neonatal hypotonia, childhood obesity, dysmorphic features, hypogonadism, mental retardation, and behavioral problems. Although PWS is most often caused by a paternal interstitial deletion of a 6-Mb region of chro...

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Detalhes bibliográficos
Main Authors: Jiang, Yong-hui, Wauki, Kekio, Liu, Qian, Bressler, Jan, Pan, Yanzhen, Kashork, Catherine D, Shaffer, Lisa G, Beaudet, Arthur L
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2008
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2268926/
https://ncbi.nlm.nih.gov/pubmed/18226259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-9-50
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