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GENE CALLED ALADIN, INVOLVED IN ALLGROVE SYNDROME, ITS EXPRESSION PRODUCT AND THEIR APPLICATIONS

机译：基因表达的Aladin，涉及Allgrove综合征，其表达产物及其应用

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摘要

The present invention relates to the identification of a novel gene, called ALADIN involved in Allgrove syndrome, and of the ALADIN gene products, as well as to the diagnostic and therapeutic applications thereof. More particularly, the invention relates to a method of in vitro diagnosis of a disorder of Allgrove syndrome's family, wherein either one or more mutation(s) is detected in the ALADIN gene, or an abnormal expression of ALADIN gene product is detected.

机译：本发明涉及涉及Allgrove综合征的称为ALADIN的新基因的鉴定，以及ALADIN基因产物的鉴定，及其诊断和治疗应用。更具体地，本发明涉及一种Allgrove综合症家族疾病的体外诊断方法，其中在ALADIN基因中检测到一个或多个突变，或者检测到ALADIN基因产物的异常表达。

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公开/公告号WO0218640A2

专利类型
公开/公告日2002-03-07

原文格式PDF
申请/专利权人 INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM);TULLIO-PELET ANASTELLA;SALOMON RÉMI;HADJ-RABIA SMAIL;LYONNET STANISLAS;MUNNICH ARNOLD;
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申请/专利号WO2001IB01574
发明设计人 LYONNET STANISLAS;MUNNICH ARNOLD;TULLIO-PELET ANASTELLA;SALOMON RÉMI;HADJ-RABIA SMAIL;
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申请日2001-08-30
分类号C12Q1/68;G01N33/58;
国家 WO
入库时间 2022-08-22 00:37:21

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