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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Dades bibliogràfiques
Publicat a:Am J Hum Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
Matèries:
Article
Accés en línia: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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