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...

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Detalles Bibliográficos
Autores principales: Kosugi, Rieko, Ariyasu, Hiroyuki, Kyo, Chika, Yonemoto, Takako, Ogawa, Tatsuo, Kotani, Masato, Saito, Kohei, Inoue, Tatsuhide, Usui, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Clinical Research Article
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

Internet

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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