Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system

We have applied an established technique, the polymerase chain reaction (PCR) with LightCycler technology, to a single disease with well‐defined mutations. This assay produces results within only 30 min by combining PCR and fluorescence detection in one tube without electrophoretic band detection. I...

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Bibliographic Details
Published in:J Clin Lab Anal
Main Authors: Funato, T., Nishiyama, Y., Ioritani, N., Matsuki, R., Yoshida, K., Kaku, M., Sasaki, T., Ideguchi, H., Ono, J.
Format: Artigo
Language:Inglês
Published: John Wiley & Sons, Inc. 2001
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6808163/
https://ncbi.nlm.nih.gov/pubmed/11138609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/1098-2825(20001212)14:6<274::AID-JCLA5>3.0.CO;2-2
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