Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

Mutations in the gene encoding the iron–sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, Warsaw breakage syndrome (WABS), in a single patient with severe microcephaly, pre- and postnatal growth retardation, and abnormal skin pigmentat...

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Veröffentlicht in:Hum Mutat
Hauptverfasser: Capo-Chichi, José-Mario, Kumar Bharti, Sanjay, Sommers, Joshua A., Yammine, Tony, Chouery, Eliane, Patry, Lysanne, Rouleau, Guy A., Samuels, Mark E., Hamdan, Fadi F., Michaud, Jacques L., Brosh, Robert M., Mégarbane, André, Kibar, Zoha
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4599780/
https://ncbi.nlm.nih.gov/pubmed/23033317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22226
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