Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

Aplastic anemia (AA) and myelodysplasia (MDS) are forms of bone marrow failure that are often part of the same progressive underlying disorder. While most cases are simplex and idiopathic, some show a clear pattern of inheritance; therefore, elucidating the underlying genetic cause could lead to a g...

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Detalhes bibliográficos
Main Authors: Kirwan, Michael, Walne, Amanda J., Plagnol, Vincent, Velangi, Mark, Ho, Aloysius, Hossain, Upal, Vulliamy, Tom, Dokal, Inderjeet
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376490/
https://ncbi.nlm.nih.gov/pubmed/22541560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.03.020
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