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An Asymptomatic Case With MEN1 Slipping Through Genetic Screening by SNV-dependent Allelic Dropout.

Rieko KosugiHiroyuki AriyasuChika KyoTakako YonemotoTatsuo OgawaMasato KotaniKohei SaitoTatsuhide InoueTakeshi Usui
Published in: Journal of the Endocrine Society (2022)
PCR-dependent genetic analysis may be susceptible to PCR allelic dropout in an SNV-specific manner. We must be careful when genetically testing individuals of relatives with clinical MEN1 disease.
Keyphrases
  • genome wide
  • real time pcr