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Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome

In 2010, a new recessive cohesinopathy disorder, designated Warsaw breakage syndrome (WABS), was described. The individual with WABS displayed microcephaly, pre- and postnatal growth retardation, and abnormal skin pigmentation. Cytogenetic analysis revealed mitomycin C (MMC)-induced chromosomal brea...

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Dades bibliogràfiques
Publicat a:Cell Mol Life Sci
Autors principals: Bharti, Sanjay Kumar, Khan, Irfan, Banerjee, Taraswi, Sommers, Joshua A., Wu, Yuliang, Brosh, Robert M.
Format: Artigo
Idioma:Inglês
Publicat: Springer Basel 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4537069/
https://ncbi.nlm.nih.gov/pubmed/24487782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00018-014-1569-4
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