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An Asymptomatic Case With MEN1 Slipping Through Genetic Screening by SNV-dependent Allelic Dropout
CONTEXT: Genetic testing is useful not only for the diagnosis of the MEN1 proband but also for determining the putative asymptomatic variant carriers to improve the prognosis or to avoid unnecessary medical intervention. However, we must be aware of the putative pitfalls of polymerase chain reaction...
Autores principales: | Kosugi, Rieko, Ariyasu, Hiroyuki, Kyo, Chika, Yonemoto, Takako, Ogawa, Tatsuo, Kotani, Masato, Saito, Kohei, Inoue, Tatsuhide, Usui, Takeshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9368020/ https://www.ncbi.nlm.nih.gov/pubmed/35965945 http://dx.doi.org/10.1210/jendso/bvac118 |
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