Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

Definitive diagnosis of primary hyperoxaluria (PH) currently utilizes sequential Sanger sequencing of the AGXT, GRPHR, and HOGA1 genes but efficacy is unproven. This analysis is time-consuming, relatively expensive, and delays in diagnosis and inappropriate treatment can occur if not pursued early i...

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Detalles Bibliográficos
Autores principales: Williams, Emma L, Bagg, Eleanor A L, Mueller, Michael, Vandrovcova, Jana, Aitman, Timothy J, Rumsby, Gill
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299716/
https://www.ncbi.nlm.nih.gov/pubmed/25629080
http://dx.doi.org/10.1002/mgg3.118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299716/
https://www.ncbi.nlm.nih.gov/pubmed/25629080
http://dx.doi.org/10.1002/mgg3.118

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