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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Détails bibliographiques
Auteurs principaux: Kirwan, Michael, Walne, Amanda J., Plagnol, Vincent, Velangi, Mark, Ho, Aloysius, Hossain, Upal, Vulliamy, Tom, Dokal, Inderjeet
Format: Artigo
Langue:Inglês
Publié: Elsevier 2012
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Accès en ligne: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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