Publication | Closed Access

The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background

Mendelian DisorderAutoimmune DiseaseDisease MechanismGenetic DisorderGeneticsInherited Metabolic DiseasePathogenesisClinical GeneticsPathologyGenetic EpidemiologyMolecular GeneticsMedical GeneticsDisease Gene IdentificationHigh FrequencyPublic HealthMedicineAshkenazi Jewish BackgroundMonogenic Disorders