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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Foilsithe in:Hum Mutat
Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2012
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Article
Rochtain Ar Líne: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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