Ataxia telangiectasia: a review
Abstract Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage resp...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , |
|---|---|
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMC
2016-11-01
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| Σειρά: | Orphanet Journal of Rare Diseases |
| Θέματα: | |
| Διαθέσιμο Online: | http://link.springer.com/article/10.1186/s13023-016-0543-7 |
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