Clinical Utility of Whole-Exome Sequencing in Rare Diseases: Galactosialidosis

Rare genetic disorders can go undiagnosed for years as the entire spectrum of phenotypic variation is not well characterized given the reduced number of patients reported in the literature and the low frequency at which these occur. Moreover, the current paradigm for clinical diagnostics defines dis...

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Hlavní autoři: Prada, Carlos E., Gonzaga-Jauregui, Claudia, Tannenbaum, Rebecca, Penney, Samantha, Lupski, James R., Hopkin, Robert J., Sutton, V. Reid
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4065856/
https://ncbi.nlm.nih.gov/pubmed/24769197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2014.04.005
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