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UBE3A gene targeted mutation analysis:Prid:Pt:Bld:Nom:Molgen

Known as: UBE3A gène mutation trouvée [Identification] Sang ; Résultat textuel ; Biologie moléculaire, gen UBE3A :presencia o identidad:punto en el tiempo:sangre:Nominal:genética molecular, UBE3A gen mutatie analyse:Aanwezigheid of identiteit:Moment:Bloed:Nominaal:Molgen 
 
National Institutes of Health

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Highly Cited
2015
Highly Cited
2015
Angelman syndrome is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness… Expand
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2015
2015
Angelman syndrome (AS) is a severe neurodevelopmental disorder that results from loss of function of the maternal ubiquitin… Expand
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2014
2014
Angelman syndrome (AS) is caused by the loss of Ube3A, an ubiquitin ligase that commits specific proteins to proteasomal… Expand
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2013
2013
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A… Expand
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Highly Cited
2012
Highly Cited
2012
The Angelman syndrome gene, UBE3A, is subject to genomic imprinting controlled by mechanisms that are only partially understood… Expand
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2011
2011
BackgroundDuplication of chromosome 15q11-q13 (dup15q) accounts for approximately 3% of autism cases. Chromosome 15q11-q13… Expand
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2011
2011
We investigated the allele- and strand-specific transcriptional landscape of a megabase-wide genomic region of mouse Ube3a… Expand
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2009
2009
The UBE3A/E6-AP is known to function both as an E3 ubiquitin ligase of the ubiquitin proteasome system and as a transcriptional… Expand
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Highly Cited
2006
Highly Cited
2006
We applied genetic tools available in Drosophila to identify candidate substrates of the UBE3A ubiquitin ligase, the gene… Expand
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Highly Cited
2005
Highly Cited
2005
The mouse ortholog of the Prader-Willi/Angelman syndrome imprinted domain contains several paternal-specific transcripts and the… Expand
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