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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Detaylı Bibliyografya
Asıl Yazarlar: Kirwan, Michael, Walne, Amanda J., Plagnol, Vincent, Velangi, Mark, Ho, Aloysius, Hossain, Upal, Vulliamy, Tom, Dokal, Inderjeet
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2012
Konular:
Report
Online Erişim: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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