Llwytho...

Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

Williams–Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Micale, Lucia, Fusco, Carmela, Augello, Bartolomeo, Napolitano, Luisa MR, Dermitzakis, Emmanouil T, Meroni, Germana, Merla, Giuseppe, Reymond, Alexandre
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2008
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2680067/
https://ncbi.nlm.nih.gov/pubmed/18398435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.68
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