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False-Positive Results Using a Gaucher Diagnostic Kit - RecTL and N370S

The Pronto(®)Gaucher kit and Pronto(®) Gaucher RecTL Amplification Mix, marketed to identify mutations in the gene for glucococerebrosidase, are widely used for the diagnosis of Gaucher disease. Subjects genotyped using this kit have been reported with an allele including both the common N370S mutat...

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Detalhes bibliográficos
Main Authors: Choi, Jae Hyuk, Velayati, Arash, Stubblefield, Barbara K., Orr-Urtreger, Avi, Gan-Or, Ziv, Tayebi, Nahid, Sidransky, Ellen
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2854310/
https://ncbi.nlm.nih.gov/pubmed/20096616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.12.017
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