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Impact of a novel 14 bp MEN1 deletion in a patient with hyperparathyroidism and gastrinoma

Multiple endocrine neoplasia type 1 (MEN-1) is a rare autosomal-dominant disease characterized by tumors in endocrine and/or non endocrine organs due to mutations in MEN1 encoding a nuclear scaffold protein‘menin’ involved in regulation of different cellular activities. We report a novel 14 bp MEN1...

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Detalles Bibliográficos
Autores principales: Birla, Shweta, P Jyotsna, Viveka, Singla, Rajiv, Tripathi, Madhavi, Sharma, Arundhati
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482156/
https://www.ncbi.nlm.nih.gov/pubmed/26191410
http://dx.doi.org/10.1530/EDM-15-0011