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. |
申请人 |
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM);TULLIO-PELET, ANASTELLA;SALOMON, REMI;HADJ-RABIA, SMAIL;LYONNET, STANISLAS;MUNNICH, ARNOLD |
发明人 |
TULLIO-PELET, ANASTELLA;SALOMON, REMI;HADJ-RABIA, SMAIL;LYONNET, STANISLAS;MUNNICH, ARNOLD |