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Molecular Genetics Of Heritable Human Disorders — JANICE CHOU (EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN D

Clinically, GSD-Ib patients manifest a metabolic phenotype of impaired blood glucose homeostasis and a long-term risk of hepatocellular adenoma/carcinoma (HCA/HCC). The etiology of HCA/HCC in GSD-Ib i

Project titleMolecular Genetics Of Heritable Human Disorders
Project number1ZIAHD000912-45
PI nameJANICE CHOU
InstitutionEUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
Funding mechanismZIA
AgencyNICHD
Award amount$2.21M
Fiscal year2024
AbstractClinically, GSD-Ib patients manifest a metabolic phenotype of impaired blood glucose homeostasis and a long-term risk of hepatocellular adenoma/carcinoma (HCA/HCC). The etiology of HCA/HCC in GSD-Ib i
Key terms<1H-Purin-6-amine><3' Splice Site><AAV vector><AAV-based vector><Active Sites><Acute Renal Failure w

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