Publication | Open Access

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

Rare DiseasesSystems BiologyThree Unrelated SubjectsMendelian DisorderGenetic DisorderGeneticsComplex DiseaseMolecular GeneticsDisease Gene IdentificationArray-based Gene DiscoveryNeuropathologyMedicineClinical Genetics