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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Micale, Lucia, Fusco, Carmela, Augello, Bartolomeo, Napolitano, Luisa MR, Dermitzakis, Emmanouil T, Meroni, Germana, Merla, Giuseppe, Reymond, Alexandre
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky