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US07847078B2 PDE11A mutations in adrenal disease 有权
PDE11A突变在肾上腺疾病

PDE11A mutations in adrenal disease
Abstract:
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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