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http://hdl.handle.net/20.500.12188/25336
Наслов: | A FIRST REPORT OF A GERMLINE FRAMESHIFT C.332DUP MUTATION IN MEN1 GENE IN A PATIENT WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | Other Titles: | ПРВО СООПШТЕНИЕ ЗА ГЕРМИНАТИВНА FRAME SHIFT C.332DUP МУТАЦИЈА ВО MEN1 ГЕНОТ КАЈ ПАЦИЕНТ СО МУЛТИПНА ЕНДОКРИНА НЕОПЛАЗИЈА ТИП 1 | Authors: | Plasheski, Tosho Bitoska, Iskra Jovanovska Mishevska, Sasha Todorova, Biljana Georgiev, Antonio Mileva Kostovska, Ivana Plaseska-Karanfilska, Dijana |
Keywords: | c.332dup mutation in MEN1 gene multiple endocrine neoplasia type 1 |
Issue Date: | мар-2022 | Publisher: | MIT University Skopje | Journal: | International Journal od Recent Research in Arts and Sciences | Abstract: | Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disease characterized by the appearance of endocrine tumors, most commonly parathyroid adenomas, gastro-entero-pancreatic endocrine tumors, and pituitary tumors. It is caused by inactivating mutations in the MEN 1 tumor suppressor gene. More than 1,300 mutations in the MEN1 gene have been described, most of which are family specific. In this paper we report a patient with MEN 1 syndrome with a c.332dup mutation in the MEN1 gene in a heterozygous form. The identification of MEN1 mutations allows the application of a specific diagnostic approach to the detection of MEN 1 associated tumors and lesions, dictates the timing of surgical procedures, and allows specific genetic analyzes of relatives to be performed to identify presymptomatic carriers. | URI: | http://hdl.handle.net/20.500.12188/25336 | ISSN: | 1857-8128 |
Appears in Collections: | Faculty of Medicine: Journal Articles |
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