Publication | Open Access

Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models

Knockout MouseMendelian DisorderGenetic DisorderGeneticsPathologyB Niemann-pick DiseaseMolecular GeneticsMutagenesisDisease Gene IdentificationCommon Smpd1 MutationsMedicineMutation-specific Mouse Models