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Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-Jul-16 , DOI: 10.1038/s41436-018-0068-7
Bruna Calsina 1 , Maria Currás-Freixes 1 , Alexandre Buffet 2 , Tirso Pons 3, 4 , Laura Contreras 5, 6 , Rocío Letón 1 , Iñaki Comino-Méndez 1 , Laura Remacha 1 , María Calatayud 7 , Berta Obispo 8 , Antoine Martin 9, 10 , Regis Cohen 11, 12 , Susan Richter 13 , Judith Balmaña 14 , Esther Korpershoek 15 , Elena Rapizzi 16 , Timo Deutschbein 17 , Laurent Vroonen 18 , Judith Favier 2 , Ronald R de Krijger 19, 20 , Martin Fassnacht 17 , Felix Beuschlein 21, 22 , Henri J Timmers 23 , Graeme Eisenhofer 13, 24 , Massimo Mannelli 16 , Karel Pacak 25 , Jorgina Satrústegui 5, 6 , Cristina Rodríguez-Antona 1, 6 , Laurence Amar 2, 26 , Alberto Cascón 1, 6 , Nicole Dölker 3 , Anne-Paule Gimenez-Roqueplo 2, 27 , Mercedes Robledo 1, 6
Affiliation  

MDH2 (malate dehydrogenase 2) has recently been proposed as a novel potential pheochromocytoma/paraganglioma (PPGL) susceptibility gene, but its role in the disease has not been addressed. This study aimed to determine the prevalence of MDH2 pathogenic variants among PPGL patients and determine the associated phenotype.

中文翻译:

MDH2 致病性变异在嗜铬细胞瘤和副神经节瘤患者中的作用。

MDH2(苹果酸脱氢酶 2)最近被提议作为一种新的潜在嗜铬细胞瘤/副神经节瘤 (PPGL) 易感基因,但其在该疾病中的作用尚未得到解决。本研究旨在确定 PPGL 患者中 MDH2 致病变异的患病率并确定相关表型。
更新日期:2018-07-16
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