Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Ataxia-pancytopenia (AP) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes associated with monosomy 7. Here, in the four-generation family UW-AP, linkage analysis revealed four regions that provided t...

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Detaylı Bibliyografya
Yayımlandı:Am J Hum Genet
Asıl Yazarlar: Chen, Dong-Hui, Below, Jennifer E., Shimamura, Akiko, Keel, Sioban B., Matsushita, Mark, Wolff, John, Sul, Youngmee, Bonkowski, Emily, Castella, Maria, Taniguchi, Toshiyasu, Nickerson, Deborah, Papayannopoulou, Thalia, Bird, Thomas D., Raskind, Wendy H.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2016
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908176/
https://ncbi.nlm.nih.gov/pubmed/27259050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.04.009
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