Φορτώνει......
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia
Whole-exome sequencing is increasingly used for diagnosis and identification of appropriate therapies in patients. Here, we present the case of a 3-yr-old male with a lifelong and severe transfusion-dependent anemia of unclear etiology, despite an extensive clinical workup. Given the difficulty of m...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Cold Spring Harb Mol Case Stud |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Cold Spring Harbor Laboratory Press
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4990811/ https://ncbi.nlm.nih.gov/pubmed/27551681 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000885 |
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