PDE11A mutations in adrenal disease
申请(专利)号:
WO2007US60746
申请日期:
2007-01-19
公开/公告号:
WO2007087493A3
公开/公告日期:
2007-11-29
申请(专利权)人:
GOVERNMENT OF THE UNITED STATES OF AMERICA, REPRESENTED BY THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICES;STRATAKIS, CONSTANTINE A.
被引量:
摘要:
The invention provides previously uncharacterized variants of PDE11A that are correlated with a newly discovered form of Cushing Syndrome that presents at a young age. The invention also provides methods useful to research, screen for, treat, or prevent diagnose the disease using the PDE11A variants, as well as other methods relating thereto.
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