Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and limb anomalies. Mutations in nearly 60% of CdLS patients have been identified in NIP...

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Detaylı Bibliyografya
Asıl Yazarlar: Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2012
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283175/
https://ncbi.nlm.nih.gov/pubmed/21934712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.175
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