Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

BACKGROUND: Whole-genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause disease. However, even in cases with simple patterns of inheritance and unambiguous diagnoses, the relationship between disease phenotypes and their corresponding genetic chan...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Lupski, James R., Reid, Jeffrey G., Gonzaga-Jauregui, Claudia, Deiros, David Rio, Chen, David C.Y., Nazareth, Lynne, Bainbridge, Matthew, Dinh, Huyen, Jing, Chyn, Wheeler, David A., McGuire, Amy L., Zhang, Feng, Stankiewicz, Pawel, Halperin, John J., Yang, Chengyong, Gehman, Curtis, Guo, Danwei, Irikat, Rola K., Tom, Warren, Fantin, Nick J., Muzny, Donna M., Gibbs, Richard A.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2010
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Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4036802/
https://ncbi.nlm.nih.gov/pubmed/20220177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0908094
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