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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados