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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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Hlavní autoři: Kirwan, Michael, Walne, Amanda J., Plagnol, Vincent, Velangi, Mark, Ho, Aloysius, Hossain, Upal, Vulliamy, Tom, Dokal, Inderjeet
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2012
Témata:
On-line přístup: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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